Linked Data
ClinVar Variation Id:
273383
ClinVar RCV Id:
RCV000508633
dbSNP Id:
rs1553540620
gnomAD v4:
2-219060317-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060317G>T , CM000664.2:g.219060317G>T | GRCh38 |
| NC_000002.11:g.219925039G>T , CM000664.1:g.219925039G>T | GRCh37 |
| NC_000002.10:g.219633283G>T | NCBI36 |
| NG_016741.1:g.5200C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.151C>A MANE Select | ENSP00000295731.5:p.Gln51Lys | |
| ENST00000295731.6:c.151C>A | ENSP00000295731.5:p.Gln51Lys | |
| NM_002181.3:c.151C>A | NP_002172.2:p.Gln51Lys | |
| NM_002181.4:c.151C>A MANE Select | NP_002172.2:p.Gln51Lys |