Linked Data
ClinVar Variation Id:
542379
dbSNP Id:
rs61754474
ExAC:
1:151786040 G / A
gnomAD v2:
1-151786040-G-A
gnomAD v3:
1-151813564-G-A
gnomAD v4:
1-151813564-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151813564G>A , CM000663.2:g.151813564G>A | GRCh38 |
| NC_000001.10:g.151786040G>A , CM000663.1:g.151786040G>A | GRCh37 |
| NC_000001.9:g.150052664G>A | NCBI36 |
| NG_029118.1:g.23309C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652040.2:c.705C>T | ENSP00000498548.2:p.Tyr235= | |
| ENST00000697811.1:c.933+1010C>T | ENSP00000513447.1:n.933+1010C>T | |
| ENST00000697812.1:n.128C>T | ||
| ENST00000697813.1:n.985C>T | ||
| ENST00000318247.7:c.990C>T MANE Select | ENSP00000327025.6:p.Tyr330= | |
| ENST00000356728.11:c.927C>T | ENSP00000349164.6:p.Tyr309= | |
| ENST00000638901.1:c.1181C>T | ||
| ENST00000651814.1:c.1072C>T | ENSP00000498691.1:p.Arg358Cys | |
| ENST00000651893.1:c.344-218C>T | ||
| ENST00000318247.6:c.990C>T | ENSP00000327025.6:p.Tyr330= | |
| ENST00000356728.10:c.927C>T | ENSP00000349164.6:p.Tyr309= | |
| ENST00000480719.1:n.1226C>T | ||
| NM_001001523.1:c.927C>T | NP_001001523.1:p.Tyr309= | |
| NM_005060.3:c.990C>T | NP_005051.2:p.Tyr330= | |
| XM_006711484.2:c.1389C>T | XP_006711547.2:p.Tyr463= | |
| XR_426792.2:n.1751C>T | ||
| XM_006711484.4:c.1389C>T | XP_006711547.2:p.Tyr463= | |
| NM_005060.4:c.990C>T MANE Select | NP_005051.2:p.Tyr330= | |
| NM_001001523.2:c.927C>T | NP_001001523.1:p.Tyr309= |