Linked Data
ClinVar Variation Id:
323082
ClinVar RCV Id:
RCV000259470
dbSNP Id:
rs771435962
ExAC:
17:39658971 G / A
gnomAD v2:
17-39658971-G-A
gnomAD v3:
17-41502719-G-A
gnomAD v4:
17-41502719-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41502719G>A , CM000679.2:g.41502719G>A | GRCh38 |
| NC_000017.10:g.39658971G>A , CM000679.1:g.39658971G>A | GRCh37 |
| NC_000017.9:g.36912497G>A | NCBI36 |
| NG_008406.1:g.7895C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246635.8:c.991C>T MANE Select | ENSP00000246635.3:p.Leu331= | |
| ENST00000246635.7:c.991C>T | ENSP00000246635.3:p.Leu331= | |
| ENST00000336861.7:c.991C>T | ENSP00000336604.3:p.Leu331= | |
| ENST00000464634.2:c.*588C>T | ENSP00000466525.1:n.*588C>T | |
| ENST00000468313.5:n.827C>T | ||
| ENST00000587544.5:c.991C>T | ENSP00000468221.1:p.Leu331= | |
| NM_002274.3:c.991C>T | NP_002265.2:p.Leu331= | |
| NM_153490.2:c.991C>T | NP_705694.2:p.Leu331= | |
| NM_153490.3:c.991C>T MANE Select | NP_705694.3:p.Leu331= | |
| NM_002274.4:c.991C>T | NP_002265.3:p.Leu331= |