Linked Data
ClinVar Variation Id:
788018
ClinVar RCV Id:
RCV000970353
dbSNP Id:
rs149806324
ExAC:
19:10624765 A / T
gnomAD v2:
19-10624765-A-T
gnomAD v3:
19-10514089-A-T
gnomAD v4:
19-10514089-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10514089A>T , CM000681.2:g.10514089A>T | GRCh38 |
| NC_000019.9:g.10624765A>T , CM000681.1:g.10624765A>T | GRCh37 |
| NC_000019.8:g.10485765A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333430.6:c.923T>A MANE Select | ENSP00000328472.3:p.Leu308His | |
| ENST00000333430.5:c.923T>A | ENSP00000328472.3:p.Leu308His | |
| ENST00000439028.3:c.923T>A | ENSP00000416915.2:p.Leu308His | |
| ENST00000617721.1:c.491T>A | ENSP00000481239.1:p.Leu164His | |
| NM_001166215.1:c.923T>A | NP_001159687.1:p.Leu308His | |
| NM_030760.4:c.923T>A | NP_110387.1:p.Leu308His | |
| NM_030760.5:c.923T>A MANE Select | NP_110387.1:p.Leu308His | |
| NM_001166215.2:c.923T>A | NP_001159687.1:p.Leu308His |