Linked Data
dbSNP Id:
rs756845325
ExAC:
9:37429665 A / T
gnomAD v2:
9-37429665-A-T
gnomAD v3:
9-37429668-A-T
gnomAD v4:
9-37429668-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429668A>T , CM000671.2:g.37429668A>T | GRCh38 |
| NC_000009.11:g.37429665A>T , CM000671.1:g.37429665A>T | GRCh37 |
| NC_000009.10:g.37419665A>T | NCBI36 |
| NG_008135.1:g.11959A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.494-64A>T MANE Select | ENSP00000313432.6:n.494-64A>T | |
| ENST00000318158.10:c.494-64A>T | ENSP00000313432.6:n.494-64A>T | |
| ENST00000377824.8:n.531-64A>T | ||
| ENST00000460882.5:n.521-64A>T | ||
| ENST00000480596.5:n.1131A>T | ||
| ENST00000491488.5:n.199-64A>T | ||
| ENST00000494290.1:c.1A>T | ENSP00000432021.1:p.Met1Leu | |
| ENST00000497693.1:n.1963A>T | ||
| ENST00000607784.1:c.494-64A>T | ENSP00000475569.1:n.494-64A>T | |
| NM_012203.1:c.494-64A>T | NP_036335.1:n.494-64A>T | |
| XM_005251631.1:c.173-64A>T | XP_005251688.1:n.173-64A>T | |
| XM_011518073.1:c.92-64A>T | XP_011516375.1:n.92-64A>T | |
| XR_929374.1:n.939-64A>T | ||
| XM_017015320.2:c.494-64A>T | XP_016870809.1:n.494-64A>T | |
| XM_017015321.2:c.494-64A>T | XP_016870810.1:n.494-64A>T | |
| XM_017015323.2:c.92-64A>T | XP_016870812.1:n.92-64A>T | |
| XM_024447716.1:c.767-64A>T | XP_024303484.1:n.767-64A>T | |
| XM_024447717.1:c.767-64A>T | XP_024303485.1:n.767-64A>T | |
| XR_002956828.1:n.782-64A>T | ||
| XR_002956829.1:n.782-64A>T | ||
| XR_002956830.1:n.553-64A>T | ||
| XR_002956831.1:n.228-64A>T | ||
| XR_002956832.1:n.913-64A>T | ||
| NM_012203.2:c.494-64A>T MANE Select | NP_036335.1:n.494-64A>T |