Linked Data
ClinVar Variation Id:
2366864
ClinVar RCV Id:
RCV004200330
dbSNP Id:
rs149385170
ExAC:
6:167754962 C / T
gnomAD v2:
6-167754962-C-T
gnomAD v3:
6-167341474-C-T
gnomAD v4:
6-167341474-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167341474C>T , CM000668.2:g.167341474C>T | GRCh38 |
| NC_000006.11:g.167754962C>T , CM000668.1:g.167754962C>T | GRCh37 |
| NC_000006.10:g.167674952C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239587.10:c.1574C>T MANE Select | ENSP00000239587.5:p.Ala525Val | |
| ENST00000649884.1:c.1355C>T | ENSP00000497040.1:p.Ala452Val | |
| ENST00000239587.9:c.1574C>T | ENSP00000239587.5:p.Ala525Val | |
| ENST00000515138.1:c.1574C>T | ENSP00000424130.1:p.Ala525Val | |
| NM_031949.4:c.1574C>T | NP_114155.4:p.Ala525Val | |
| XM_006715572.2:c.1355C>T | XP_006715635.1:p.Ala452Val | |
| XM_006715572.4:c.1355C>T | XP_006715635.1:p.Ala452Val | |
| NM_031949.5:c.1574C>T MANE Select | NP_114155.4:p.Ala525Val |