Linked Data
ClinVar Variation Id:
198697
ClinVar RCV Id:
RCV001721128
dbSNP Id:
rs2059806
ExAC:
19:7166376 C / T
gnomAD v2:
19-7166376-C-T
gnomAD v3:
19-7166365-C-T
gnomAD v4:
19-7166365-C-T
PubMed:
PMID:10933564
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7166365C>T , CM000681.2:g.7166365C>T | GRCh38 |
| NC_000019.9:g.7166376C>T , CM000681.1:g.7166376C>T | GRCh37 |
| NC_000019.8:g.7117376C>T | NCBI36 |
| NG_008852.2:g.132636G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.1650G>A MANE Select | ENSP00000303830.4:p.Ala550= | |
| ENST00000302850.9:c.1650G>A | ENSP00000303830.4:p.Ala550= | |
| ENST00000341500.9:c.1650G>A | ENSP00000342838.4:p.Ala550= | |
| ENST00000598216.1:n.1625G>A | ||
| ENST00000600492.1:c.51G>A | ENSP00000473170.1:p.Ala17= | |
| NM_000208.2:c.1650G>A | NP_000199.2:p.Ala550= | |
| NM_000208.3:c.1650G>A | NP_000199.2:p.Ala550= | |
| NM_001079817.1:c.1650G>A | NP_001073285.1:p.Ala550= | |
| NM_001079817.2:c.1650G>A | NP_001073285.1:p.Ala550= | |
| XM_011527988.1:c.1728G>A | XP_011526290.1:p.Ala576= | |
| XM_011527989.1:c.1728G>A | XP_011526291.1:p.Ala576= | |
| XM_011527988.2:c.1650G>A | XP_011526290.2:p.Ala550= | |
| XM_011527989.3:c.1650G>A | XP_011526291.2:p.Ala550= | |
| NM_000208.4:c.1650G>A MANE Select | NP_000199.2:p.Ala550= | |
| NM_001079817.3:c.1650G>A | NP_001073285.1:p.Ala550= |