Linked Data
ClinVar Variation Id:
100171
dbSNP Id:
rs61753984
ExAC:
12:6230460 G / A
gnomAD v2:
12-6230460-G-A
gnomAD v4:
12-6121294-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6121294G>A , CM000674.2:g.6121294G>A | GRCh38 |
| NC_000012.11:g.6230460G>A , CM000674.1:g.6230460G>A | GRCh37 |
| NC_000012.10:g.6100721G>A | NCBI36 |
| NG_009072.1:g.8377C>T | |
| NG_009072.2:g.8377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.100C>T MANE Select | ENSP00000261405.5:p.Arg34Ter | |
| ENST00000261405.9:c.100C>T | ENSP00000261405.5:p.Arg34Ter | |
| ENST00000321023.5:c.*159C>T | ENSP00000461331.1:n.*159C>T | |
| ENST00000538563.1:c.*159C>T | ENSP00000459134.1:n.*159C>T | |
| ENST00000538635.5:n.129C>T | ||
| NM_000552.3:c.100C>T | NP_000543.2:p.Arg34Ter | |
| NM_000552.4:c.100C>T | NP_000543.2:p.Arg34Ter | |
| NM_000552.5:c.100C>T MANE Select | NP_000543.3:p.Arg34Ter |