Linked Data
ClinVar Variation Id:
628
ClinVar RCV Id:
RCV000000660
RCV000078502
RCV000150077
RCV000850463
RCV001280537
RCV003390629
RCV003258654
dbSNP Id:
rs62642937
ExAC:
12:103237484 G / A
gnomAD v2:
12-103237484-G-A
gnomAD v3:
12-102843706-G-A
gnomAD v4:
12-102843706-G-A
ERepo:
CA114369/MONDO:0009861/006
PubMed:
PMID:7981714
PMID:8268925
PMID:8533759
PMID:8981952
PMID:9012412
PMID:9298832
PMID:9350299
PMID:9399896
PMID:9429153
PMID:9634518
PMID:10234516
PMID:10693064
PMID:11385716
PMID:12655553
PMID:14722928
PMID:16198137
PMID:17924342
PMID:17935162
PMID:18294361
PMID:18299955
PMID:21147011
PMID:21307867
PMID:22698810
PMID:23357515
PMID:23500595
PMID:23932990
PMID:24350308
PMID:24368688
PMID:25087612
PMID:25333069
PMID:26600521
PMID:27121329
PMID:27620137
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843706G>A , CM000674.2:g.102843706G>A | GRCh38 |
| NC_000012.11:g.103237484G>A , CM000674.1:g.103237484G>A | GRCh37 |
| NC_000012.10:g.101761614G>A | NCBI36 |
| NG_008690.1:g.78897C>T | |
| NG_008690.2:g.119705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1139C>T MANE Select | ENSP00000448059.1:p.Thr380Met | |
| ENST00000307000.7:c.1124C>T | ENSP00000303500.2:p.Thr375Met | |
| ENST00000549247.6:n.898C>T | ||
| ENST00000551114.2:n.801C>T | ||
| ENST00000553106.5:c.1139C>T | ENSP00000448059.1:p.Thr380Met | |
| ENST00000635477.1:c.243C>T | ||
| ENST00000635528.1:n.654C>T | ||
| NM_000277.1:c.1139C>T | NP_000268.1:p.Thr380Met | |
| XM_011538422.1:c.1082C>T | XP_011536724.1:p.Thr361Met | |
| NM_000277.2:c.1139C>T | NP_000268.1:p.Thr380Met | |
| NM_001354304.1:c.1139C>T | NP_001341233.1:p.Thr380Met | |
| NM_000277.3:c.1139C>T MANE Select | NP_000268.1:p.Thr380Met | |
| NM_001354304.2:c.1139C>T | NP_001341233.1:p.Thr380Met |