Linked Data
ClinVar Variation Id:
1013964
dbSNP Id:
rs765525964
ExAC:
7:100224468 G / A
gnomAD v2:
7-100224468-G-A
gnomAD v3:
7-100626845-G-A
gnomAD v4:
7-100626845-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100626845G>A , CM000669.2:g.100626845G>A | GRCh38 |
| NC_000007.13:g.100224468G>A , CM000669.1:g.100224468G>A | GRCh37 |
| NC_000007.12:g.100062404G>A | NCBI36 |
| NG_007989.1:g.19706C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.2054C>T MANE Select | ENSP00000223051.3:p.Ala685Val | |
| ENST00000223051.7:c.2054C>T | ENSP00000223051.3:p.Ala685Val | |
| ENST00000431692.5:c.*729C>T | ENSP00000413905.1:n.*729C>T | |
| ENST00000461176.1:n.400C>T | ||
| ENST00000462090.5:n.1090C>T | ||
| ENST00000462107.1:c.2054C>T | ENSP00000420525.1:p.Ala685Val | |
| ENST00000465294.5:n.1974C>T | ||
| ENST00000476304.5:n.1675C>T | ||
| ENST00000490084.5:c.1407C>T | ||
| NM_001206855.1:c.1541C>T | NP_001193784.1:p.Ala514Val | |
| NM_003227.3:c.2054C>T | NP_003218.2:p.Ala685Val | |
| XM_005250553.3:c.2054C>T | XP_005250610.1:p.Ala685Val | |
| XM_005250554.3:c.2054C>T | XP_005250611.1:p.Ala685Val | |
| XR_927814.1:n.433+4291G>A | ||
| NM_001206855.2:c.1541C>T | NP_001193784.1:p.Ala514Val | |
| XM_005250553.4:c.2054C>T | XP_005250610.1:p.Ala685Val | |
| XM_017012573.1:c.2054C>T | XP_016868062.1:p.Ala685Val | |
| NM_003227.4:c.2054C>T MANE Select | NP_003218.2:p.Ala685Val | |
| NM_001206855.3:c.1541C>T | NP_001193784.1:p.Ala514Val |