Linked Data
ClinVar Variation Id:
529446
ClinVar RCV Id:
RCV000634889
dbSNP Id:
rs566417795
gnomAD v2:
19-13002939-G-T
gnomAD v3:
19-12892125-G-T
gnomAD v4:
19-12892125-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12892125G>T , CM000681.2:g.12892125G>T | GRCh38 |
| NC_000019.9:g.13002939G>T , CM000681.1:g.13002939G>T | GRCh37 |
| NC_000019.8:g.12863939G>T | NCBI36 |
| NG_009292.1:g.5966G>T | |
| NG_013087.1:g.79C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.281G>T MANE Select | ENSP00000222214.4:p.Arg94Leu | |
| ENST00000222214.9:c.281G>T | ENSP00000222214.4:p.Arg94Leu | |
| ENST00000421816.6:n.312+151G>T | ||
| ENST00000585420.5:n.646G>T | ||
| ENST00000585760.5:n.317G>T | ||
| ENST00000587072.1:c.281G>T | ENSP00000468584.1:p.Arg94Leu | |
| ENST00000587832.5:n.338G>T | ||
| ENST00000588905.5:c.245G>T | ENSP00000465770.1:p.Arg82Leu | |
| ENST00000589039.5:c.271+151G>T | ENSP00000465618.1:n.271+151G>T | |
| ENST00000590445.5:c.*158G>T | ENSP00000468125.1:n.*158G>T | |
| ENST00000590530.5:c.271+151G>T | ENSP00000468452.1:n.271+151G>T | |
| ENST00000590627.5:n.646G>T | ||
| ENST00000591043.1:n.317G>T | ||
| ENST00000591470.5:c.281G>T | ENSP00000466845.1:p.Arg94Leu | |
| NM_000159.3:c.281G>T | NP_000150.1:p.Arg94Leu | |
| NM_013976.3:c.281G>T | NP_039663.1:p.Arg94Leu | |
| NR_102316.1:n.379+151G>T | ||
| NR_102317.1:n.697G>T | ||
| XM_006722721.2:c.281G>T | XP_006722784.1:p.Arg94Leu | |
| XM_011527899.1:c.281G>T | XP_011526201.1:p.Arg94Leu | |
| XM_011527900.1:c.281G>T | XP_011526202.1:p.Arg94Leu | |
| XM_011527899.2:c.281G>T | XP_011526201.1:p.Arg94Leu | |
| XM_011527900.2:c.281G>T | XP_011526202.1:p.Arg94Leu | |
| XM_017026580.1:c.281G>T | XP_016882069.1:p.Arg94Leu | |
| NM_000159.4:c.281G>T MANE Select | NP_000150.1:p.Arg94Leu | |
| NM_013976.4:c.281G>T | NP_039663.1:p.Arg94Leu | |
| NM_013976.5:c.281G>T | NP_039663.1:p.Arg94Leu |