Linked Data
ClinVar Variation Id:
12141
ClinVar RCV Id:
RCV000012924
dbSNP Id:
rs104894688
ExAC:
19:49253713 G / A
gnomAD v2:
19-49253713-G-A
gnomAD v3:
19-48750456-G-A
gnomAD v4:
19-48750456-G-A
PubMed:
PMID:7912436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48750456G>A , CM000681.2:g.48750456G>A | GRCh38 |
| NC_000019.9:g.49253713G>A , CM000681.1:g.49253713G>A | GRCh37 |
| NC_000019.8:g.53945525G>A | NCBI36 |
| NG_007510.1:g.9935C>T | |
| NG_007510.2:g.9935C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645652.2:c.826C>T MANE Select | ENSP00000494643.1:p.Gln276Ter | |
| ENST00000310160.7:c.826C>T | ENSP00000312021.3:p.Gln276Ter | |
| NM_000148.3:c.826C>T | NP_000139.1:p.Gln276Ter | |
| XM_006723127.1:c.1195C>T | XP_006723190.1:p.Gln399Ter | |
| NM_001329877.1:c.826C>T | NP_001316806.1:p.Gln276Ter | |
| NM_000148.4:c.826C>T | NP_000139.1:p.Gln276Ter | |
| NM_001384359.1:c.826C>T MANE Select | NP_001371288.1:p.Gln276Ter |