Linked Data
ClinVar Variation Id:
16095
ClinVar RCV Id:
RCV000017475
dbSNP Id:
rs121909744
gnomAD v2:
3-170716106-G-A
gnomAD v3:
3-170998317-G-A
gnomAD v4:
3-170998317-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.170998317G>A , CM000665.2:g.170998317G>A | GRCh38 |
| NC_000003.11:g.170716106G>A , CM000665.1:g.170716106G>A | GRCh37 |
| NC_000003.10:g.172198800G>A | NCBI36 |
| NG_008108.1:g.33663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314251.8:c.1250C>T MANE Select | ENSP00000323568.3:p.Pro417Leu | |
| ENST00000314251.7:c.1250C>T | ENSP00000323568.3:p.Pro417Leu | |
| ENST00000469787.1:c.*717C>T | ENSP00000417918.1:n.*717C>T | |
| ENST00000497642.5:c.*717C>T | ENSP00000418456.1:n.*717C>T | |
| NM_000340.1:c.1250C>T | NP_000331.1:p.Pro417Leu | |
| NM_001278658.1:c.893C>T | NP_001265587.1:p.Pro298Leu | |
| NM_001278659.1:c.731C>T | NP_001265588.1:p.Pro244Leu | |
| XM_011513087.1:c.1205C>T | XP_011511389.1:p.Pro402Leu | |
| XM_011513088.1:c.1031C>T | XP_011511390.1:p.Pro344Leu | |
| XM_011513089.1:c.731C>T | XP_011511391.1:p.Pro244Leu | |
| XM_011513087.2:c.1205C>T | XP_011511389.1:p.Pro402Leu | |
| XM_024453720.1:c.731C>T | XP_024309488.1:p.Pro244Leu | |
| NM_000340.2:c.1250C>T MANE Select | NP_000331.1:p.Pro417Leu | |
| NM_001278658.2:c.893C>T | NP_001265587.1:p.Pro298Leu | |
| NM_001278659.2:c.731C>T | NP_001265588.1:p.Pro244Leu |