Linked Data
ClinVar Variation Id:
1681736
dbSNP Id:
rs781462684
ExAC:
12:57905534 G / C
gnomAD v2:
12-57905534-G-C
gnomAD v3:
12-57511751-G-C
gnomAD v4:
12-57511751-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57511751G>C , CM000674.2:g.57511751G>C | GRCh38 |
| NC_000012.11:g.57905534G>C , CM000674.1:g.57905534G>C | GRCh37 |
| NC_000012.10:g.56191801G>C | NCBI36 |
| NG_034077.1:g.28799G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.1422G>C MANE Select | ENSP00000262027.5:p.Trp474Cys | |
| ENST00000262027.9:c.1422G>C | ENSP00000262027.5:p.Trp474Cys | |
| ENST00000447721.6:n.1064G>C | ||
| ENST00000537638.6:c.1422G>C | ENSP00000446168.2:p.Trp474Cys | |
| ENST00000545888.6:c.*923G>C | ENSP00000439307.2:n.*923G>C | |
| ENST00000546971.5:n.166G>C | ||
| ENST00000548944.1:c.134-4744G>C | ENSP00000449071.1:n.134-4744G>C | |
| ENST00000549603.1:n.368G>C | ||
| ENST00000628866.2:c.*923G>C | ENSP00000486738.1:n.*923G>C | |
| NM_004990.3:c.1422G>C | NP_004981.2:p.Trp474Cys | |
| XM_006719398.2:c.720G>C | XP_006719461.1:p.Trp240Cys | |
| XM_011538353.1:c.1422G>C | XP_011536655.1:p.Trp474Cys | |
| XM_006719398.4:c.720G>C | XP_006719461.1:p.Trp240Cys | |
| XR_001748704.2:n.1445G>C | ||
| XR_002957327.1:n.1369G>C | ||
| NM_004990.4:c.1422G>C MANE Select | NP_004981.2:p.Trp474Cys |