Linked Data
ClinVar Variation Id:
208262
ClinVar RCV Id:
RCV000206982
dbSNP Id:
rs864621981
gnomAD v3:
19-12658318-G-A
gnomAD v4:
19-12658318-G-A
PubMed:
PMID:22161967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12658318G>A , CM000681.2:g.12658318G>A | GRCh38 |
| NC_000019.9:g.12769132G>A , CM000681.1:g.12769132G>A | GRCh37 |
| NC_000019.8:g.12630132G>A | NCBI36 |
| NG_008318.1:g.13460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1136C>T MANE Select | ENSP00000395473.2:p.Pro379Leu | |
| ENST00000221363.8:c.1133C>T | ENSP00000221363.4:p.Pro378Leu | |
| ENST00000456935.6:c.1136C>T | ENSP00000395473.2:p.Pro379Leu | |
| ENST00000465830.1:n.300C>T | ||
| ENST00000466794.5:n.1035C>T | ||
| ENST00000495617.1:n.280+413C>T | ||
| NM_000528.3:c.1136C>T | NP_000519.2:p.Pro379Leu | |
| NM_001173498.1:c.1133C>T | NP_001166969.1:p.Pro378Leu | |
| XM_005259913.1:c.1139C>T | XP_005259970.1:p.Pro380Leu | |
| XM_011528017.1:c.35C>T | XP_011526319.1:p.Pro12Leu | |
| XM_005259913.2:c.1139C>T | XP_005259970.1:p.Pro380Leu | |
| XM_024451518.1:c.35C>T | XP_024307286.1:p.Pro12Leu | |
| NM_000528.4:c.1136C>T MANE Select | NP_000519.2:p.Pro379Leu | |
| NM_001173498.2:c.1133C>T | NP_001166969.1:p.Pro378Leu |