Linked Data
ClinVar Variation Id:
353624
ClinVar RCV Id:
RCV000380495
dbSNP Id:
rs754527323
ExAC:
5:38496613 C / A
gnomAD v2:
5-38496613-C-A
gnomAD v3:
5-38496511-C-A
gnomAD v4:
5-38496511-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38496511C>A , CM000667.2:g.38496511C>A | GRCh38 |
| NC_000005.9:g.38496613C>A , CM000667.1:g.38496613C>A | GRCh37 |
| NC_000005.8:g.38532370C>A | NCBI36 |
| NG_011817.1:g.103895G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453190.7:c.1756G>T MANE Select | ENSP00000398368.2:p.Glu586Ter | |
| ENST00000263409.8:c.1756G>T | ENSP00000263409.4:p.Glu586Ter | |
| ENST00000453190.6:c.1756G>T | ENSP00000398368.2:p.Glu586Ter | |
| ENST00000503088.1:n.1919G>T | ||
| ENST00000506003.5:c.134G>T | ||
| NM_001127671.1:c.1756G>T | NP_001121143.1:p.Glu586Ter | |
| NM_002310.5:c.1756G>T | NP_002301.1:p.Glu586Ter | |
| XM_011514040.1:c.1756G>T | XP_011512342.1:p.Glu586Ter | |
| XM_011514041.1:c.1756G>T | XP_011512343.1:p.Glu586Ter | |
| XM_011514042.1:c.1756G>T | XP_011512344.1:p.Glu586Ter | |
| NM_001364297.1:c.1756G>T | NP_001351226.1:p.Glu586Ter | |
| NM_001364298.1:c.1756G>T | NP_001351227.1:p.Glu586Ter | |
| XM_011514042.3:c.1756G>T | XP_011512344.1:p.Glu586Ter | |
| XM_017009462.1:c.1810G>T | XP_016864951.1:p.Glu604Ter | |
| XM_017009463.1:c.1756G>T | XP_016864952.1:p.Glu586Ter | |
| NM_001127671.2:c.1756G>T MANE Select | NP_001121143.1:p.Glu586Ter | |
| NM_002310.6:c.1756G>T | NP_002301.1:p.Glu586Ter | |
| NM_001364297.2:c.1756G>T | NP_001351226.1:p.Glu586Ter | |
| NM_001364298.2:c.1756G>T | NP_001351227.1:p.Glu586Ter |