Linked Data
dbSNP Id:
rs767268393
ExAC:
19:6714365 G / A
gnomAD v2:
19-6714365-G-A
gnomAD v4:
19-6714354-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714354G>A , CM000681.2:g.6714354G>A | GRCh38 |
| NC_000019.9:g.6714365G>A , CM000681.1:g.6714365G>A | GRCh37 |
| NC_000019.8:g.6665365G>A | NCBI36 |
| NG_009557.1:g.11298C>T , LRG_27:g.11298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.474C>T | ENSP00000512083.1:p.Val158= | |
| ENST00000245907.11:c.597C>T MANE Select | ENSP00000245907.4:p.Val199= | |
| ENST00000245907.10:c.597C>T | ENSP00000245907.4:p.Val199= | |
| NM_000064.3:c.597C>T | NP_000055.2:p.Val199= | |
| NM_000064.4:c.597C>T MANE Select | NP_000055.2:p.Val199= |