Linked Data
dbSNP Id:
rs11811767
gnomAD v2:
1-60012900-G-A
gnomAD v3:
1-59547228-G-A
gnomAD v4:
1-59547228-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.59547228G>A , CM000663.2:g.59547228G>A | GRCh38 |
| NC_000001.10:g.60012900G>A , CM000663.1:g.60012900G>A | GRCh37 |
| NC_000001.9:g.59785488G>A | NCBI36 |
| NG_030039.1:g.255276G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303721.12:c.800-6896G>A MANE Select | ENSP00000305922.8:n.800-6896G>A | |
| ENST00000303721.11:c.800-6896G>A | ENSP00000305922.7:n.800-6896G>A | |
| ENST00000371212.5:c.536-6896G>A | ENSP00000360256.1:n.536-6896G>A | |
| ENST00000371218.8:c.800-6896G>A | ENSP00000360262.4:n.800-6896G>A | |
| ENST00000424725.2:c.*171+34789G>A | ENSP00000489345.1:n.*171+34789G>A | |
| ENST00000430447.5:c.800-6896G>A | ENSP00000403425.1:n.800-6896G>A | |
| ENST00000474476.5:n.557-6896G>A | ||
| ENST00000475949.5:n.333-6896G>A | ||
| ENST00000485720.1:n.125-6896G>A | ||
| ENST00000495718.5:n.869-6896G>A | ||
| ENST00000634364.1:c.800-6896G>A | ENSP00000489446.1:n.800-6896G>A | |
| ENST00000634399.1:c.*410-6896G>A | ENSP00000489146.1:n.*410-6896G>A | |
| ENST00000634606.1:c.464-6896G>A | ENSP00000489030.1:n.464-6896G>A | |
| ENST00000635156.1:c.536-6896G>A | ENSP00000489417.1:n.536-6896G>A | |
| ENST00000635297.1:c.176-6896G>A | ENSP00000489549.1:n.176-6896G>A | |
| NM_001113411.1:c.800-6896G>A | NP_001106882.1:n.800-6896G>A | |
| NM_001244714.1:c.536-6896G>A | NP_001231643.1:n.536-6896G>A | |
| NM_001278224.1:c.-98-6896G>A | NP_001265153.1:n.-98-6896G>A | |
| NM_018291.3:c.800-6896G>A | NP_060761.3:n.800-6896G>A | |
| NR_103473.1:n.970-6896G>A | ||
| XM_011541728.1:c.800-6896G>A | XP_011540030.1:n.800-6896G>A | |
| XM_011541729.1:c.800-6896G>A | XP_011540031.1:n.800-6896G>A | |
| XM_011541730.1:c.800-6896G>A | XP_011540032.1:n.800-6896G>A | |
| XM_011541731.1:c.800-6896G>A | XP_011540033.1:n.800-6896G>A | |
| XM_011541732.1:c.800-6896G>A | XP_011540034.1:n.800-6896G>A | |
| XM_011541733.1:c.800-6896G>A | XP_011540035.1:n.800-6896G>A | |
| XM_011541734.1:c.800-6896G>A | XP_011540036.1:n.800-6896G>A | |
| XM_011541735.1:c.800-6896G>A | XP_011540037.1:n.800-6896G>A | |
| XM_011541736.1:c.536-6896G>A | XP_011540038.1:n.536-6896G>A | |
| XM_011541737.1:c.800-6896G>A | XP_011540039.1:n.800-6896G>A | |
| XM_011541738.1:c.176-6896G>A | XP_011540040.1:n.176-6896G>A | |
| XR_946697.1:n.814-6896G>A | ||
| XR_946698.1:n.814-6896G>A | ||
| NM_001350790.1:c.800-6896G>A | NP_001337719.1:n.800-6896G>A | |
| NM_001350791.1:c.800-6896G>A | NP_001337720.1:n.800-6896G>A | |
| NM_001350792.1:c.632-6896G>A | NP_001337721.1:n.632-6896G>A | |
| NM_001350793.1:c.632-6896G>A | NP_001337722.1:n.632-6896G>A | |
| NM_001350794.1:c.800-6896G>A | NP_001337723.1:n.800-6896G>A | |
| NM_001350795.1:c.536-6896G>A | NP_001337724.1:n.536-6896G>A | |
| NM_001350796.1:c.464-6896G>A | NP_001337725.1:n.464-6896G>A | |
| NM_001350797.1:c.398-6896G>A | NP_001337726.1:n.398-6896G>A | |
| NM_001350798.1:c.464-6896G>A | NP_001337727.1:n.464-6896G>A | |
| NM_001350799.1:c.464-6896G>A | NP_001337728.1:n.464-6896G>A | |
| XM_011541736.3:c.536-6896G>A | XP_011540038.1:n.536-6896G>A | |
| XM_017001643.2:c.800-6896G>A | XP_016857132.1:n.800-6896G>A | |
| XM_017001645.1:c.800-6896G>A | XP_016857134.1:n.800-6896G>A | |
| XM_017001646.1:c.800-6896G>A | XP_016857135.1:n.800-6896G>A | |
| XM_017001649.1:c.800-6896G>A | XP_016857138.1:n.800-6896G>A | |
| XM_017001652.1:c.800-6896G>A | XP_016857141.1:n.800-6896G>A | |
| XM_017001655.1:c.536-6896G>A | XP_016857144.1:n.536-6896G>A | |
| XM_017001656.1:c.464-6896G>A | XP_016857145.1:n.464-6896G>A | |
| XM_017001657.2:c.464-6896G>A | XP_016857146.1:n.464-6896G>A | |
| XM_017001659.2:c.464-6896G>A | XP_016857148.1:n.464-6896G>A | |
| XM_017001660.2:c.464-6896G>A | XP_016857149.1:n.464-6896G>A | |
| XM_017001661.2:c.464-6896G>A | XP_016857150.1:n.464-6896G>A | |
| XM_017001662.2:c.464-6896G>A | XP_016857151.1:n.464-6896G>A | |
| XM_017001663.2:c.464-6896G>A | XP_016857152.1:n.464-6896G>A | |
| XM_017001664.2:c.464-6896G>A | XP_016857153.1:n.464-6896G>A | |
| XM_017001666.1:c.536-6896G>A | XP_016857155.1:n.536-6896G>A | |
| XM_017001668.1:c.398-6896G>A | XP_016857157.1:n.398-6896G>A | |
| XM_017001669.2:c.398-6896G>A | XP_016857158.1:n.398-6896G>A | |
| XM_017001670.2:c.398-6896G>A | XP_016857159.1:n.398-6896G>A | |
| XM_017001671.1:c.398-6896G>A | XP_016857160.1:n.398-6896G>A | |
| XM_017001673.2:c.464-6896G>A | XP_016857162.1:n.464-6896G>A | |
| XM_017001677.1:c.176-6896G>A | XP_016857166.1:n.176-6896G>A | |
| XM_017001678.1:c.176-6896G>A | XP_016857167.1:n.176-6896G>A | |
| XM_017001679.1:c.800-6896G>A | XP_016857168.1:n.800-6896G>A | |
| XM_024448176.1:c.800-6896G>A | XP_024303944.1:n.800-6896G>A | |
| XM_024448185.1:c.632-6896G>A | XP_024303953.1:n.632-6896G>A | |
| XM_024448196.1:c.632-6896G>A | XP_024303964.1:n.632-6896G>A | |
| XM_024448207.1:c.800-6896G>A | XP_024303975.1:n.800-6896G>A | |
| XM_024448220.1:c.464-6896G>A | XP_024303988.1:n.464-6896G>A | |
| XM_024448227.1:c.176-6896G>A | XP_024303995.1:n.176-6896G>A | |
| XM_024448229.1:c.176-6896G>A | XP_024303997.1:n.176-6896G>A | |
| XR_001737284.1:n.981-6896G>A | ||
| XR_001737285.1:n.936-6896G>A | ||
| XR_001737286.1:n.913-6896G>A | ||
| XR_001737287.1:n.981-6896G>A | ||
| NM_001113411.2:c.800-6896G>A | NP_001106882.1:n.800-6896G>A | |
| NM_001244714.2:c.536-6896G>A | NP_001231643.1:n.536-6896G>A | |
| NM_001278224.2:c.-98-6896G>A | NP_001265153.1:n.-98-6896G>A | |
| NM_001350790.2:c.800-6896G>A | NP_001337719.1:n.800-6896G>A | |
| NM_001350791.2:c.800-6896G>A | NP_001337720.1:n.800-6896G>A | |
| NM_001350792.2:c.632-6896G>A | NP_001337721.1:n.632-6896G>A | |
| NM_001350793.2:c.632-6896G>A | NP_001337722.1:n.632-6896G>A | |
| NM_001350794.2:c.800-6896G>A | NP_001337723.1:n.800-6896G>A | |
| NM_001350795.2:c.536-6896G>A | NP_001337724.1:n.536-6896G>A | |
| NM_001350796.2:c.464-6896G>A | NP_001337725.1:n.464-6896G>A | |
| NM_001350797.2:c.398-6896G>A | NP_001337726.1:n.398-6896G>A | |
| NM_001350798.2:c.464-6896G>A | NP_001337727.1:n.464-6896G>A | |
| NM_001350799.2:c.464-6896G>A | NP_001337728.1:n.464-6896G>A | |
| NM_018291.5:c.800-6896G>A MANE Select | NP_060761.3:n.800-6896G>A | |
| NR_103473.2:n.888-6896G>A |