Linked Data
ClinVar Variation Id:
589975
ClinVar RCV Id:
RCV001400722
RCV002318160
RCV003446399
RCV003446400
RCV003446401
RCV003446402
RCV003446398
dbSNP Id:
rs181115612
ExAC:
1:43396318 G / A
gnomAD v2:
1-43396318-G-A
gnomAD v3:
1-42930647-G-A
gnomAD v4:
1-42930647-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930647G>A , CM000663.2:g.42930647G>A | GRCh38 |
| NC_000001.10:g.43396318G>A , CM000663.1:g.43396318G>A | GRCh37 |
| NC_000001.9:g.43168905G>A | NCBI36 |
| NG_008232.1:g.33530C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.495C>T MANE Select | ENSP00000416293.2:p.Val165= | |
| ENST00000674765.1:c.495C>T | ENSP00000501811.1:p.Val165= | |
| ENST00000675112.1:n.518C>T | ||
| ENST00000676254.1:n.944C>T | ||
| ENST00000426263.7:c.495C>T | ENSP00000416293.2:p.Val165= | |
| ENST00000439722.2:c.374C>T | ENSP00000395521.2:n.374C>T | |
| ENST00000475162.3:c.394C>T | ||
| ENST00000625233.2:n.703C>T | ||
| ENST00000630287.2:c.495C>T | ENSP00000486694.1:p.Val165= | |
| NM_006516.2:c.495C>T | NP_006507.2:p.Val165= | |
| NM_006516.3:c.495C>T | NP_006507.2:p.Val165= | |
| NM_006516.4:c.495C>T MANE Select | NP_006507.2:p.Val165= |