Linked Data
ClinVar Variation Id:
221680
ClinVar RCV Id:
RCV000207394
dbSNP Id:
rs150074056
ExAC:
19:49254190 G / A
gnomAD v2:
19-49254190-G-A
gnomAD v3:
19-48750933-G-A
gnomAD v4:
19-48750933-G-A
COSMIC:
COSM1207656
PubMed:
PMID:9745152
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48750933G>A , CM000681.2:g.48750933G>A | GRCh38 |
| NC_000019.9:g.49254190G>A , CM000681.1:g.49254190G>A | GRCh37 |
| NC_000019.8:g.53946002G>A | NCBI36 |
| NG_007510.1:g.9458C>T | |
| NG_007510.2:g.9458C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645652.2:c.349C>T MANE Select | ENSP00000494643.1:p.His117Tyr | |
| ENST00000310160.7:c.349C>T | ENSP00000312021.3:p.His117Tyr | |
| NM_000148.3:c.349C>T | NP_000139.1:p.His117Tyr | |
| XM_006723127.1:c.718C>T | XP_006723190.1:p.His240Tyr | |
| NM_001329877.1:c.349C>T | NP_001316806.1:p.His117Tyr | |
| NM_000148.4:c.349C>T | NP_000139.1:p.His117Tyr | |
| NM_001384359.1:c.349C>T MANE Select | NP_001371288.1:p.His117Tyr |