Linked Data
dbSNP Id:
rs138854860
gnomAD v2:
3-101476672-G-A
gnomAD v3:
3-101757828-G-A
gnomAD v4:
3-101757828-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101757828G>A , CM000665.2:g.101757828G>A | GRCh38 |
| NC_000003.11:g.101476672G>A , CM000665.1:g.101476672G>A | GRCh37 |
| NC_000003.10:g.102959362G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465011.2:c.*857G>A | ENSP00000419009.1:n.*857G>A | |
| ENST00000467655.2:c.*309G>A | ENSP00000418547.2:n.*309G>A | |
| ENST00000704365.1:c.1222G>A | ENSP00000515873.1:p.Val408Ile | |
| ENST00000704366.1:c.1120G>A | ENSP00000515874.1:p.Val374Ile | |
| ENST00000704367.1:c.943G>A | ENSP00000515875.1:p.Val315Ile | |
| ENST00000704368.1:n.1715G>A | ||
| ENST00000704369.1:c.736G>A | ENSP00000515876.1:p.Val246Ile | |
| ENST00000704370.1:c.1216G>A | ENSP00000515877.1:p.Val406Ile | |
| ENST00000704372.1:n.1576G>A | ||
| ENST00000704444.1:c.1006G>A | ENSP00000515896.1:p.Val336Ile | |
| ENST00000704445.1:c.874G>A | ENSP00000515897.1:p.Val292Ile | |
| ENST00000704446.1:c.1048+632G>A | ENSP00000515898.1:n.1048+632G>A | |
| ENST00000341893.8:c.1222G>A MANE Select | ENSP00000342510.3:p.Val408Ile | |
| ENST00000341893.7:c.1222G>A | ENSP00000342510.3:p.Val408Ile | |
| ENST00000467655.1:c.837G>A | ENSP00000418547.1:n.837G>A | |
| ENST00000489172.5:n.1204G>A | ||
| ENST00000494050.5:c.1045G>A | ENSP00000418185.1:p.Val349Ile | |
| NM_001303401.1:c.1045G>A | NP_001290330.1:p.Val349Ile | |
| NM_024548.3:c.1222G>A | NP_078824.2:p.Val408Ile | |
| XM_006713743.2:c.1120G>A | XP_006713806.1:p.Val374Ile | |
| XM_011513125.1:c.1006G>A | XP_011511427.1:p.Val336Ile | |
| XM_011513126.1:c.1006G>A | XP_011511428.1:p.Val336Ile | |
| XM_011513127.1:c.874G>A | XP_011511429.1:p.Val292Ile | |
| XM_006713743.4:c.1120G>A | XP_006713806.1:p.Val374Ile | |
| XM_017007178.2:c.943G>A | XP_016862667.1:p.Val315Ile | |
| NM_024548.4:c.1222G>A MANE Select | NP_078824.2:p.Val408Ile | |
| NM_001303401.2:c.1045G>A | NP_001290330.1:p.Val349Ile |