Linked Data
ClinVar Variation Id:
2699360
ClinVar RCV Id:
RCV003505523
dbSNP Id:
rs753009764
ExAC:
19:7592419 G / T
gnomAD v2:
19-7592419-G-T
gnomAD v4:
19-7527533-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527533G>T , CM000681.2:g.7527533G>T | GRCh38 |
| NC_000019.9:g.7592419G>T , CM000681.1:g.7592419G>T | GRCh37 |
| NC_000019.8:g.7498419G>T | NCBI36 |
| NG_015806.1:g.9924G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.585G>T MANE Select | ENSP00000264079.5:p.Val195= | |
| ENST00000264079.10:c.585G>T | ENSP00000264079.5:p.Val195= | |
| ENST00000394321.9:n.665G>T | ||
| ENST00000598406.1:n.406G>T | ||
| ENST00000601003.1:c.572-331G>T | ENSP00000469074.1:n.572-331G>T | |
| NM_020533.2:c.585G>T | NP_065394.1:p.Val195= | |
| NM_020533.3:c.585G>T MANE Select | NP_065394.1:p.Val195= |