Linked Data
ClinVar Variation Id:
310076
dbSNP Id:
rs78995469
ExAC:
12:6161792 G / A
gnomAD v2:
12-6161792-G-A
gnomAD v3:
12-6052626-G-A
gnomAD v4:
12-6052626-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6052626G>A , CM000674.2:g.6052626G>A | GRCh38 |
| NC_000012.11:g.6161792G>A , CM000674.1:g.6161792G>A | GRCh37 |
| NC_000012.10:g.6032053G>A | NCBI36 |
| NG_009072.1:g.77045C>T | |
| NG_009072.2:g.77045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2103C>T MANE Select | ENSP00000261405.5:p.Cys701= | |
| ENST00000261405.9:c.2103C>T | ENSP00000261405.5:p.Cys701= | |
| ENST00000538635.5:n.420+57889C>T | ||
| NM_000552.3:c.2103C>T | NP_000543.2:p.Cys701= | |
| NM_000552.4:c.2103C>T | NP_000543.2:p.Cys701= | |
| NM_000552.5:c.2103C>T MANE Select | NP_000543.3:p.Cys701= |