Linked Data
dbSNP Id:
rs1201012822
gnomAD v2:
3-183853208-T-C
gnomAD v3:
3-184135420-T-C
gnomAD v4:
3-184135420-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184135420T>C , CM000665.2:g.184135420T>C | GRCh38 |
| NC_000003.11:g.183853208T>C , CM000665.1:g.183853208T>C | GRCh37 |
| NC_000003.10:g.185335902T>C | NCBI36 |
| NG_015826.1:g.5399T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432569.2:c.35T>C | ENSP00000414775.1:p.Val12Ala | |
| ENST00000465218.3:n.58T>C | ||
| ENST00000468748.7:n.18T>C | ||
| ENST00000471832.2:c.35T>C | ENSP00000497786.1:p.Val12Ala | |
| ENST00000492226.2:n.32T>C | ||
| ENST00000647636.1:c.35T>C | ENSP00000497505.1:p.Val12Ala | |
| ENST00000647909.1:c.35T>C | ENSP00000498164.1:p.Val12Ala | |
| ENST00000648314.1:c.35T>C | ENSP00000496920.1:p.Val12Ala | |
| ENST00000648599.1:c.35T>C | ENSP00000497159.1:p.Val12Ala | |
| ENST00000648630.1:c.29T>C | ENSP00000497887.1:p.Val10Ala | |
| ENST00000648682.1:c.35T>C | ENSP00000498185.1:p.Val12Ala | |
| ENST00000648882.1:c.35T>C | ENSP00000497603.1:p.Val12Ala | |
| ENST00000648890.1:c.35T>C | ENSP00000497503.1:p.Val12Ala | |
| ENST00000648915.2:c.35T>C MANE Select | ENSP00000497160.1:p.Val12Ala | |
| ENST00000649688.1:c.35T>C | ENSP00000497097.1:p.Val12Ala | |
| ENST00000649814.1:n.84T>C | ||
| ENST00000273783.7:c.35T>C | ENSP00000273783.3:p.Val12Ala | |
| ENST00000432569.1:c.35T>C | ENSP00000414775.1:p.Val12Ala | |
| ENST00000432982.5:c.21T>C | ||
| ENST00000444495.1:c.35T>C | ENSP00000409142.1:p.Val12Ala | |
| ENST00000481054.5:n.36T>C | ||
| ENST00000491144.5:n.383T>C | ||
| NM_003907.2:c.35T>C | NP_003898.2:p.Val12Ala | |
| XR_924208.1:n.986T>C | ||
| NM_003907.3:c.35T>C MANE Select | NP_003898.2:p.Val12Ala | |
| XM_011513266.3:c.-867T>C | XP_011511568.1:n.-867T>C | |
| XR_001740352.2:n.398T>C | ||
| XR_001740353.2:n.398T>C | ||
| XR_924208.2:n.398T>C |