Linked Data
ClinVar Variation Id:
44157
ClinVar RCV Id:
RCV000037133
RCV000243047
RCV000316256
RCV000301959
RCV000605069
RCV002513462
RCV002468989
dbSNP Id:
rs7413162
ExAC:
1:116243877 G / A
gnomAD v2:
1-116243877-G-A
gnomAD v3:
1-115701256-G-A
gnomAD v4:
1-115701256-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115701256G>A , CM000663.2:g.115701256G>A | GRCh38 |
| NC_000001.10:g.116243877G>A , CM000663.1:g.116243877G>A | GRCh37 |
| NC_000001.9:g.116045400G>A | NCBI36 |
| NG_008802.1:g.72550C>T , LRG_404:g.72550C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.*557C>T | ENSP00000518226.1:n.*557C>T | |
| ENST00000261448.6:c.1185C>T MANE Select | ENSP00000261448.5:p.Asp395= | |
| ENST00000261448.5:c.1185C>T | ENSP00000261448.5:p.Asp395= | |
| NM_001232.3:c.1185C>T , LRG_404t1:c.1185C>T | NP_001223.2:p.Asp395= | |
| NM_001232.4:c.1185C>T MANE Select | NP_001223.2:p.Asp395= |