Linked Data
ClinVar Variation Id:
971433
ClinVar RCV Id:
RCV001247210
dbSNP Id:
rs373487333
ExAC:
2:97427269 G / A
gnomAD v2:
2-97427269-G-A
gnomAD v3:
2-96761532-G-A
gnomAD v4:
2-96761532-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96761532G>A , CM000664.2:g.96761532G>A | GRCh38 |
| NC_000002.11:g.97427269G>A , CM000664.1:g.97427269G>A | GRCh37 |
| NC_000002.10:g.96790996G>A | NCBI36 |
| NG_016608.1:g.5631G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377075.3:c.533G>A MANE Select | ENSP00000366275.2:p.Arg178Lys | |
| ENST00000377075.2:c.533G>A | ENSP00000366275.2:p.Arg178Lys | |
| NM_020184.3:c.533G>A | NP_064569.3:p.Arg178Lys | |
| XM_005263914.2:c.533G>A | XP_005263971.1:p.Arg178Lys | |
| XM_005263915.2:c.533G>A | XP_005263972.1:p.Arg178Lys | |
| XM_011510955.1:c.533G>A | XP_011509257.1:p.Arg178Lys | |
| XM_011510956.1:c.533G>A | XP_011509258.1:p.Arg178Lys | |
| XM_005263914.4:c.533G>A | XP_005263971.1:p.Arg178Lys | |
| XM_005263915.4:c.533G>A | XP_005263972.1:p.Arg178Lys | |
| XM_011510955.3:c.533G>A | XP_011509257.1:p.Arg178Lys | |
| XM_011510956.3:c.533G>A | XP_011509258.1:p.Arg178Lys | |
| NM_020184.4:c.533G>A MANE Select | NP_064569.3:p.Arg178Lys |