Linked Data
ClinVar Variation Id:
402975
dbSNP Id:
rs4833837
ExAC:
4:123536963 G / A
gnomAD v2:
4-123536963-G-A
gnomAD v3:
4-122615808-G-A
gnomAD v4:
4-122615808-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122615808G>A , CM000666.2:g.122615808G>A | GRCh38 |
| NC_000004.11:g.123536963G>A , CM000666.1:g.123536963G>A | GRCh37 |
| NC_000004.10:g.123756413G>A | NCBI36 |
| NG_031966.1:g.10250C>T | |
| NG_031966.2:g.10259C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611104.2:c.234C>T | ENSP00000477555.1:p.Cys78= | |
| ENST00000647784.1:n.86C>T | ||
| ENST00000648588.1:c.234C>T MANE Select | ENSP00000497915.1:p.Cys78= | |
| ENST00000264497.7:c.234C>T | ENSP00000264497.3:p.Cys78= | |
| ENST00000611104.1:c.234C>T | ENSP00000477555.1:p.Cys78= | |
| NM_001207006.2:c.234C>T | NP_001193935.1:p.Cys78= | |
| NM_021803.3:c.234C>T | NP_068575.1:p.Cys78= | |
| NM_021803.4:c.234C>T MANE Select | NP_068575.1:p.Cys78= | |
| NM_001207006.3:c.234C>T | NP_001193935.1:p.Cys78= |