Linked Data
ClinVar Variation Id:
595
dbSNP Id:
rs62516095
ExAC:
12:103237555 G / C
gnomAD v2:
12-103237555-G-C
gnomAD v3:
12-102843777-G-C
gnomAD v4:
12-102843777-G-C
PubMed:
PMID:2816939
PMID:8406445
PMID:9860305
PMID:10471838
PMID:17935162
PMID:20140859
PMID:21462123
PMID:21811977
PMID:24350308
PMID:24401910
ERepo:
CA229327/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843777G>C , CM000674.2:g.102843777G>C | GRCh38 |
| NC_000012.11:g.103237555G>C , CM000674.1:g.103237555G>C | GRCh37 |
| NC_000012.10:g.101761685G>C | NCBI36 |
| NG_008690.1:g.78826C>G | |
| NG_008690.2:g.119634C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1068C>G MANE Select | ENSP00000448059.1:p.Tyr356Ter | |
| ENST00000307000.7:c.1053C>G | ENSP00000303500.2:p.Tyr351Ter | |
| ENST00000549247.6:n.827C>G | ||
| ENST00000551114.2:n.730C>G | ||
| ENST00000553106.5:c.1068C>G | ENSP00000448059.1:p.Tyr356Ter | |
| ENST00000635477.1:c.172C>G | ||
| ENST00000635528.1:n.583C>G | ||
| NM_000277.1:c.1068C>G | NP_000268.1:p.Tyr356Ter | |
| XM_011538422.1:c.1011C>G | XP_011536724.1:p.Tyr337Ter | |
| NM_000277.2:c.1068C>G | NP_000268.1:p.Tyr356Ter | |
| NM_001354304.1:c.1068C>G | NP_001341233.1:p.Tyr356Ter | |
| NM_000277.3:c.1068C>G MANE Select | NP_000268.1:p.Tyr356Ter | |
| NM_001354304.2:c.1068C>G | NP_001341233.1:p.Tyr356Ter |