Linked Data
ClinVar Variation Id:
372226
dbSNP Id:
rs138215926
ExAC:
4:106320294 G / A
gnomAD v2:
4-106320294-G-A
gnomAD v3:
4-105399137-G-A
gnomAD v4:
4-105399137-G-A
PubMed:
PMID:27523597
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105399137G>A , CM000666.2:g.105399137G>A | GRCh38 |
| NC_000004.11:g.106320294G>A , CM000666.1:g.106320294G>A | GRCh37 |
| NC_000004.10:g.106539743G>A | NCBI36 |
| NG_053007.1:g.79934C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341695.10:c.683C>T MANE Select | ENSP00000343885.5:p.Pro228Leu | |
| ENST00000341695.9:c.683C>T | ENSP00000343885.5:p.Pro228Leu | |
| ENST00000348706.9:c.596C>T | ENSP00000313061.8:p.Pro199Leu | |
| ENST00000351450.10:c.*405C>T | ENSP00000273977.9:n.*405C>T | |
| ENST00000354147.7:c.185C>T | ENSP00000340352.3:p.Pro62Leu | |
| ENST00000432483.6:c.377C>T | ENSP00000389957.2:p.Pro126Leu | |
| ENST00000503171.5:n.375C>T | ||
| ENST00000508518.5:c.619C>T | ||
| ENST00000509031.5:c.*442C>T | ENSP00000423467.1:n.*442C>T | |
| ENST00000509426.5:n.692C>T | ||
| ENST00000510015.5:c.464C>T | ENSP00000423363.1:p.Pro155Leu | |
| ENST00000513605.5:n.500C>T | ||
| ENST00000515567.5:c.143-28264C>T | ||
| NM_006903.4:c.596C>T | NP_008834.3:p.Pro199Leu | |
| NM_176866.2:c.377C>T | NP_789842.2:p.Pro126Leu | |
| NM_176867.3:c.185C>T | NP_789843.2:p.Pro62Leu | |
| NM_176869.2:c.683C>T | NP_789845.1:p.Pro228Leu | |
| NM_176869.3:c.683C>T MANE Select | NP_789845.1:p.Pro228Leu |