Linked Data
ClinVar Variation Id:
593618
dbSNP Id:
rs200546977
ExAC:
11:45931820 G / A
gnomAD v2:
11-45931820-G-A
gnomAD v3:
11-45910269-G-A
gnomAD v4:
11-45910269-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45910269G>A , CM000673.2:g.45910269G>A | GRCh38 |
| NC_000011.9:g.45931820G>A , CM000673.1:g.45931820G>A | GRCh37 |
| NC_000011.8:g.45888396G>A | NCBI36 |
| NG_008460.1:g.12855C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.996C>T MANE Select | ENSP00000368024.5:p.Phe332= | |
| ENST00000241041.7:c.953-92C>T | ENSP00000241041.3:n.953-92C>T | |
| ENST00000378750.9:c.996C>T | ENSP00000368024.5:p.Phe332= | |
| ENST00000523721.2:n.226C>T | ||
| ENST00000532681.5:c.711C>T | ENSP00000434654.1:p.Phe237= | |
| NM_004813.2:c.996C>T | NP_004804.1:p.Phe332= | |
| NM_057174.2:c.953-92C>T | NP_476515.1:n.953-92C>T | |
| XM_011520474.1:c.873C>T | XP_011518776.1:p.Phe291= | |
| NM_004813.3:c.996C>T | NP_004804.1:p.Phe332= | |
| NM_004813.4:c.996C>T MANE Select | NP_004804.2:p.Phe332= | |
| NM_057174.3:c.953-92C>T | NP_476515.2:n.953-92C>T |