Linked Data
ClinVar Variation Id:
542374
ClinVar RCV Id:
RCV000652787
dbSNP Id:
rs139551639
ExAC:
1:151785819 G / A
gnomAD v2:
1-151785819-G-A
gnomAD v3:
1-151813343-G-A
gnomAD v4:
1-151813343-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151813343G>A , CM000663.2:g.151813343G>A | GRCh38 |
| NC_000001.10:g.151785819G>A , CM000663.1:g.151785819G>A | GRCh37 |
| NC_000001.9:g.150052443G>A | NCBI36 |
| NG_029118.1:g.23530C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652040.2:c.785C>T | ENSP00000498548.2:p.Ala262Val | |
| ENST00000697811.1:c.933+1231C>T | ENSP00000513447.1:n.933+1231C>T | |
| ENST00000697812.1:n.208C>T | ||
| ENST00000697813.1:n.1065C>T | ||
| ENST00000318247.7:c.1070C>T MANE Select | ENSP00000327025.6:p.Ala357Val | |
| ENST00000356728.11:c.1007C>T | ENSP00000349164.6:p.Ala336Val | |
| ENST00000638901.1:c.1261C>T | ||
| ENST00000651814.1:c.*27C>T | ENSP00000498691.1:n.*27C>T | |
| ENST00000651893.1:c.347C>T | ||
| ENST00000318247.6:c.1070C>T | ENSP00000327025.6:p.Ala357Val | |
| ENST00000356728.10:c.1007C>T | ENSP00000349164.6:p.Ala336Val | |
| ENST00000480719.1:n.1447C>T | ||
| NM_001001523.1:c.1007C>T | NP_001001523.1:p.Ala336Val | |
| NM_005060.3:c.1070C>T | NP_005051.2:p.Ala357Val | |
| XM_006711484.2:c.1469C>T | XP_006711547.2:p.Ala490Val | |
| XR_426792.2:n.1831C>T | ||
| XM_006711484.4:c.1469C>T | XP_006711547.2:p.Ala490Val | |
| NM_005060.4:c.1070C>T MANE Select | NP_005051.2:p.Ala357Val | |
| NM_001001523.2:c.1007C>T | NP_001001523.1:p.Ala336Val |