Linked Data
ClinVar Variation Id:
374731
dbSNP Id:
rs377729019
ExAC:
11:2188707 G / A
gnomAD v2:
11-2188707-G-A
gnomAD v3:
11-2167477-G-A
gnomAD v4:
11-2167477-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2167477G>A , CM000673.2:g.2167477G>A | GRCh38 |
| NC_000011.9:g.2188707G>A , CM000673.1:g.2188707G>A | GRCh37 |
| NC_000011.8:g.2145283G>A | NCBI36 |
| NG_008128.1:g.9329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.653C>T MANE Select | ENSP00000325951.4:p.Pro218Leu | |
| ENST00000324155.8:c.*342C>T | ENSP00000325831.3:n.*342C>T | |
| ENST00000333684.9:c.653C>T | ENSP00000328814.6:p.Pro218Leu | |
| ENST00000352909.7:c.653C>T | ENSP00000325951.3:p.Pro218Leu | |
| ENST00000381168.7:c.*373C>T | ENSP00000370560.3:n.*373C>T | |
| ENST00000381175.5:c.734C>T | ENSP00000370567.1:p.Pro245Leu | |
| ENST00000381178.5:c.746C>T | ENSP00000370571.1:p.Pro249Leu | |
| ENST00000412076.1:c.93C>T | ||
| ENST00000416223.5:c.93C>T | ||
| ENST00000469226.1:n.782C>T | ||
| NM_000360.3:c.653C>T | NP_000351.2:p.Pro218Leu | |
| NM_199292.2:c.746C>T | NP_954986.2:p.Pro249Leu | |
| NM_199293.2:c.734C>T | NP_954987.2:p.Pro245Leu | |
| XM_011520335.1:c.665C>T | XP_011518637.1:p.Pro222Leu | |
| XM_011520335.2:c.665C>T | XP_011518637.1:p.Pro222Leu | |
| NM_000360.4:c.653C>T MANE Select | NP_000351.2:p.Pro218Leu | |
| NM_199292.3:c.746C>T | NP_954986.2:p.Pro249Leu | |
| NM_199293.3:c.734C>T | NP_954987.2:p.Pro245Leu |