Linked Data
ClinVar Variation Id:
894760
ClinVar RCV Id:
RCV001136355
dbSNP Id:
rs201399912
ExAC:
2:157186339 A / C
gnomAD v2:
2-157186339-A-C
gnomAD v3:
2-156329827-A-C
gnomAD v4:
2-156329827-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156329827A>C , CM000664.2:g.156329827A>C | GRCh38 |
| NC_000002.11:g.157186339A>C , CM000664.1:g.157186339A>C | GRCh37 |
| NC_000002.10:g.156894585A>C | NCBI36 |
| NG_011821.1:g.7949T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421709.2:c.171T>G | ENSP00000388120.2:p.Val57= | |
| ENST00000700228.1:c.231T>G | ENSP00000514865.1:p.Val77= | |
| ENST00000700231.1:c.360T>G | ENSP00000514868.1:p.Val120= | |
| ENST00000339562.9:c.360T>G MANE Select | ENSP00000344479.4:p.Val120= | |
| ENST00000675870.1:c.171T>G | ENSP00000502739.1:p.Val57= | |
| ENST00000339562.8:c.360T>G | ENSP00000344479.4:p.Val120= | |
| ENST00000406048.2:c.208+87T>G | ||
| ENST00000409108.6:c.360T>G | ENSP00000386993.2:p.Val120= | |
| ENST00000409572.5:c.360T>G | ENSP00000386747.1:p.Val120= | |
| ENST00000417764.5:c.171T>G | ENSP00000415632.1:p.Val57= | |
| ENST00000417972.5:c.171T>G | ENSP00000394671.1:p.Val57= | |
| ENST00000421709.1:c.171T>G | ENSP00000388120.1:p.Val57= | |
| ENST00000424077.1:c.360T>G | ENSP00000406808.1:p.Val120= | |
| ENST00000426264.5:c.171T>G | ENSP00000389986.1:p.Val57= | |
| ENST00000429376.5:c.171T>G | ENSP00000410952.1:p.Val57= | |
| NM_006186.3:c.360T>G | NP_006177.1:p.Val120= | |
| XM_005246621.2:c.393T>G | XP_005246678.1:p.Val131= | |
| XM_005246622.2:c.171T>G | XP_005246679.1:p.Val57= | |
| XM_005246623.1:c.171T>G | XP_005246680.1:p.Val57= | |
| XM_006712553.2:c.393T>G | XP_006712616.1:p.Val131= | |
| XM_011511246.1:c.393T>G | XP_011509548.1:p.Val131= | |
| XR_427087.2:n.2566T>G | ||
| NM_173173.2:c.171T>G | NP_775265.1:p.Val57= | |
| XM_005246621.4:c.393T>G | XP_005246678.1:p.Val131= | |
| XM_006712553.4:c.393T>G | XP_006712616.1:p.Val131= | |
| XM_011511246.2:c.393T>G | XP_011509548.1:p.Val131= | |
| XM_017004219.2:c.360T>G | XP_016859708.1:p.Val120= | |
| XM_017004220.2:c.360T>G | XP_016859709.1:p.Val120= | |
| XR_001738751.2:n.728T>G | ||
| XR_001738752.2:n.550T>G | ||
| XR_427087.4:n.607T>G | ||
| NM_006186.4:c.360T>G MANE Select | NP_006177.1:p.Val120= | |
| NM_173173.3:c.171T>G | NP_775265.1:p.Val57= |