Linked Data
ClinVar Variation Id:
652941
ClinVar RCV Id:
RCV000808617
dbSNP Id:
rs147363563
ExAC:
1:151785424 G / T
gnomAD v2:
1-151785424-G-T
gnomAD v3:
1-151812948-G-T
gnomAD v4:
1-151812948-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151812948G>T , CM000663.2:g.151812948G>T | GRCh38 |
| NC_000001.10:g.151785424G>T , CM000663.1:g.151785424G>T | GRCh37 |
| NC_000001.9:g.150052048G>T | NCBI36 |
| NG_029118.1:g.23925C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652040.2:c.999C>A | ENSP00000498548.2:p.Ala333= | |
| ENST00000697811.1:c.934-1514C>A | ENSP00000513447.1:n.934-1514C>A | |
| ENST00000697812.1:n.422C>A | ||
| ENST00000697813.1:n.1460C>A | ||
| ENST00000318247.7:c.1284C>A MANE Select | ENSP00000327025.6:p.Ala428= | |
| ENST00000356728.11:c.1221C>A | ENSP00000349164.6:p.Ala407= | |
| ENST00000638901.1:c.1475C>A | ||
| ENST00000651814.1:c.*241C>A | ENSP00000498691.1:n.*241C>A | |
| ENST00000651893.1:c.561C>A | ||
| ENST00000318247.6:c.1284C>A | ENSP00000327025.6:p.Ala428= | |
| ENST00000356728.10:c.1221C>A | ENSP00000349164.6:p.Ala407= | |
| ENST00000480719.1:n.1842C>A | ||
| NM_001001523.1:c.1221C>A | NP_001001523.1:p.Ala407= | |
| NM_005060.3:c.1284C>A | NP_005051.2:p.Ala428= | |
| XM_006711484.2:c.1683C>A | XP_006711547.2:p.Ala561= | |
| XR_426792.2:n.2045C>A | ||
| XM_006711484.4:c.1683C>A | XP_006711547.2:p.Ala561= | |
| NM_005060.4:c.1284C>A MANE Select | NP_005051.2:p.Ala428= | |
| NM_001001523.2:c.1221C>A | NP_001001523.1:p.Ala407= |