Linked Data
ClinVar Variation Id:
12140
ClinVar RCV Id:
RCV000012923
dbSNP Id:
rs104894687
PubMed:
PMID:7912436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48750791A>T , CM000681.2:g.48750791A>T | GRCh38 |
| NC_000019.9:g.49254048A>T , CM000681.1:g.49254048A>T | GRCh37 |
| NC_000019.8:g.53945860A>T | NCBI36 |
| NG_007510.1:g.9600T>A | |
| NG_007510.2:g.9600T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645652.2:c.491T>A MANE Select | ENSP00000494643.1:p.Leu164His | |
| ENST00000310160.7:c.491T>A | ENSP00000312021.3:p.Leu164His | |
| NM_000148.3:c.491T>A | NP_000139.1:p.Leu164His | |
| XM_006723127.1:c.860T>A | XP_006723190.1:p.Leu287His | |
| NM_001329877.1:c.491T>A | NP_001316806.1:p.Leu164His | |
| NM_000148.4:c.491T>A | NP_000139.1:p.Leu164His | |
| NM_001384359.1:c.491T>A MANE Select | NP_001371288.1:p.Leu164His |