Linked Data
ClinVar Variation Id:
44159
ClinVar RCV Id:
RCV000037135
RCV000243615
RCV000279846
RCV000336960
RCV000625047
RCV001711118
RCV002468990
RCV002513464
dbSNP Id:
rs28730711
ExAC:
1:116243868 A / G
gnomAD v2:
1-116243868-A-G
gnomAD v3:
1-115701247-A-G
gnomAD v4:
1-115701247-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115701247A>G , CM000663.2:g.115701247A>G | GRCh38 |
| NC_000001.10:g.116243868A>G , CM000663.1:g.116243868A>G | GRCh37 |
| NC_000001.9:g.116045391A>G | NCBI36 |
| NG_008802.1:g.72559T>C , LRG_404:g.72559T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.*566T>C | ENSP00000518226.1:n.*566T>C | |
| ENST00000261448.6:c.1194T>C MANE Select | ENSP00000261448.5:p.Asp398= | |
| ENST00000261448.5:c.1194T>C | ENSP00000261448.5:p.Asp398= | |
| NM_001232.3:c.1194T>C , LRG_404t1:c.1194T>C | NP_001223.2:p.Asp398= | |
| NM_001232.4:c.1194T>C MANE Select | NP_001223.2:p.Asp398= |