Linked Data
ClinVar Variation Id:
3038987
ClinVar RCV Id:
RCV003914337
dbSNP Id:
rs143749109
ExAC:
13:52971572 G / A
gnomAD v2:
13-52971572-G-A
gnomAD v3:
13-52397437-G-A
gnomAD v4:
13-52397437-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52397437G>A , CM000675.2:g.52397437G>A | GRCh38 |
| NC_000013.10:g.52971572G>A , CM000675.1:g.52971572G>A | GRCh37 |
| NC_000013.9:g.51869573G>A | NCBI36 |
| NG_047168.1:g.14058C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258613.5:c.816C>T MANE Select | ENSP00000258613.4:p.Val272= | |
| ENST00000648254.1:c.816C>T | ENSP00000497520.1:p.Val272= | |
| ENST00000258613.4:c.816C>T | ENSP00000258613.4:p.Val272= | |
| ENST00000349258.8:c.816C>T | ENSP00000340650.4:p.Val272= | |
| NM_018676.3:c.816C>T | NP_061146.1:p.Val272= | |
| NM_199263.2:c.816C>T | NP_954872.1:p.Val272= | |
| NM_018676.4:c.816C>T MANE Select | NP_061146.1:p.Val272= | |
| NM_199263.3:c.816C>T | NP_954872.1:p.Val272= |