Linked Data
ClinVar Variation Id:
2186921
ClinVar RCV Id:
RCV002611207
dbSNP Id:
rs941111415
ExAC:
7:100224389 C / T
gnomAD v2:
7-100224389-C-T
gnomAD v3:
7-100626766-C-T
gnomAD v4:
7-100626766-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100626766C>T , CM000669.2:g.100626766C>T | GRCh38 |
| NC_000007.13:g.100224389C>T , CM000669.1:g.100224389C>T | GRCh37 |
| NC_000007.12:g.100062325C>T | NCBI36 |
| NG_007989.1:g.19785G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223051.8:c.2133G>A MANE Select | ENSP00000223051.3:p.Met711Ile | |
| ENST00000223051.7:c.2133G>A | ENSP00000223051.3:p.Met711Ile | |
| ENST00000431692.5:c.*808G>A | ENSP00000413905.1:n.*808G>A | |
| ENST00000461176.1:n.479G>A | ||
| ENST00000462090.5:n.1169G>A | ||
| ENST00000462107.1:c.2133G>A | ENSP00000420525.1:p.Met711Ile | |
| ENST00000465294.5:n.2053G>A | ||
| ENST00000476304.5:n.1754G>A | ||
| ENST00000490084.5:c.1486G>A | ||
| NM_001206855.1:c.1620G>A | NP_001193784.1:p.Met540Ile | |
| NM_003227.3:c.2133G>A | NP_003218.2:p.Met711Ile | |
| XM_005250553.3:c.2133G>A | XP_005250610.1:p.Met711Ile | |
| XM_005250554.3:c.2133G>A | XP_005250611.1:p.Met711Ile | |
| XR_927814.1:n.433+4212C>T | ||
| NM_001206855.2:c.1620G>A | NP_001193784.1:p.Met540Ile | |
| XM_005250553.4:c.2133G>A | XP_005250610.1:p.Met711Ile | |
| XM_017012573.1:c.2133G>A | XP_016868062.1:p.Met711Ile | |
| NM_003227.4:c.2133G>A MANE Select | NP_003218.2:p.Met711Ile | |
| NM_001206855.3:c.1620G>A | NP_001193784.1:p.Met540Ile |