Linked Data
ClinVar Variation Id:
157569
dbSNP Id:
rs143601447
gnomAD v2:
15-43552666-A-G
gnomAD v3:
15-43260468-A-G
gnomAD v4:
15-43260468-A-G
PubMed:
PMID:22622422
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43260468A>G , CM000677.2:g.43260468A>G | GRCh38 |
| NC_000015.9:g.43552666A>G , CM000677.1:g.43552666A>G | GRCh37 |
| NC_000015.8:g.41339958A>G | NCBI36 |
| NG_016124.1:g.11390T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220420.10:c.122T>C MANE Select | ENSP00000220420.5:p.Leu41Pro | |
| ENST00000220420.9:c.122T>C | ENSP00000220420.5:p.Leu41Pro | |
| ENST00000349114.8:c.122T>C | ENSP00000220419.8:p.Leu41Pro | |
| ENST00000610827.4:c.119T>C | ENSP00000479732.1:p.Leu40Pro | |
| ENST00000611276.4:c.119T>C | ENSP00000482542.1:p.Leu40Pro | |
| ENST00000622115.1:c.125T>C | ENSP00000479638.1:p.Leu42Pro | |
| NM_004245.3:c.122T>C | NP_004236.1:p.Leu41Pro | |
| NM_201631.3:c.122T>C | NP_963925.2:p.Leu41Pro | |
| XM_011522229.1:c.122T>C | XP_011520531.1:p.Leu41Pro | |
| XR_931948.1:n.296T>C | ||
| NM_004245.4:c.122T>C | NP_004236.1:p.Leu41Pro | |
| NM_201631.4:c.122T>C MANE Select | NP_963925.2:p.Leu41Pro |