Linked Data
ClinVar Variation Id:
1751870
dbSNP Id:
rs748095297
ExAC:
19:7592448 C / A
gnomAD v2:
19-7592448-C-A
gnomAD v3:
19-7527562-C-A
gnomAD v4:
19-7527562-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527562C>A , CM000681.2:g.7527562C>A | GRCh38 |
| NC_000019.9:g.7592448C>A , CM000681.1:g.7592448C>A | GRCh37 |
| NC_000019.8:g.7498448C>A | NCBI36 |
| NG_015806.1:g.9953C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.614C>A MANE Select | ENSP00000264079.5:p.Pro205His | |
| ENST00000264079.10:c.614C>A | ENSP00000264079.5:p.Pro205His | |
| ENST00000394321.9:n.694C>A | ||
| ENST00000598406.1:n.435C>A | ||
| ENST00000601003.1:c.572-302C>A | ENSP00000469074.1:n.572-302C>A | |
| NM_020533.2:c.614C>A | NP_065394.1:p.Pro205His | |
| NM_020533.3:c.614C>A MANE Select | NP_065394.1:p.Pro205His |