Linked Data
dbSNP Id:
rs200727971
ExAC:
9:125133518 G / T
gnomAD v2:
9-125133518-G-T
gnomAD v4:
9-122371239-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.122371239G>T , CM000671.2:g.122371239G>T | GRCh38 |
| NC_000009.11:g.125133518G>T , CM000671.1:g.125133518G>T | GRCh37 |
| NC_000009.10:g.124173339G>T | NCBI36 |
| NG_032900.1:g.5290G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362012.7:c.61G>T MANE Select | ENSP00000354612.2:p.Val21Phe | |
| ENST00000426608.6:c.61G>T | ENSP00000411606.2:p.Val21Phe | |
| ENST00000540753.6:c.-237G>T | ENSP00000437709.1:n.-237G>T | |
| ENST00000619306.5:c.61G>T | ENSP00000483540.2:p.Val21Phe | |
| ENST00000643576.1:n.155G>T | ||
| ENST00000643810.1:c.-267G>T | ENSP00000494717.1:n.-267G>T | |
| ENST00000645132.1:n.228G>T | ||
| ENST00000647067.1:c.61G>T | ENSP00000495728.1:p.Val21Phe | |
| ENST00000223423.8:c.61G>T | ENSP00000223423.4:p.Val21Phe | |
| ENST00000362012.6:c.61G>T | ENSP00000354612.2:p.Val21Phe | |
| ENST00000426608.5:c.52G>T | ENSP00000411606.1:p.Val18Phe | |
| ENST00000540753.5:c.-237G>T | ENSP00000437709.1:n.-237G>T | |
| ENST00000614910.4:c.61G>T | ENSP00000484800.1:p.Val21Phe | |
| ENST00000619306.4:c.154G>T | ENSP00000483540.1:p.Val52Phe | |
| NM_000962.3:c.61G>T | NP_000953.2:p.Val21Phe | |
| NM_001271164.1:c.61G>T | NP_001258093.1:p.Val21Phe | |
| NM_001271166.1:c.-267G>T | NP_001258095.1:n.-267G>T | |
| NM_001271367.1:c.-238G>T | NP_001258296.1:n.-238G>T | |
| NM_001271368.1:c.-237G>T | NP_001258297.1:n.-237G>T | |
| NM_080591.2:c.61G>T | NP_542158.1:p.Val21Phe | |
| XM_005252105.2:c.-237G>T | XP_005252162.1:n.-237G>T | |
| XM_011518875.1:c.-237G>T | XP_011517177.1:n.-237G>T | |
| XM_011518876.1:c.-4099G>T | XP_011517178.1:n.-4099G>T | |
| XM_005252105.3:c.-237G>T | XP_005252162.1:n.-237G>T | |
| XM_011518875.2:c.-237G>T | XP_011517177.1:n.-237G>T | |
| XM_011518876.2:c.-4099G>T | XP_011517178.1:n.-4099G>T | |
| XM_024447614.1:c.-267G>T | XP_024303382.1:n.-267G>T | |
| XM_024447615.1:c.-267G>T | XP_024303383.1:n.-267G>T | |
| NM_000962.4:c.61G>T MANE Select | NP_000953.2:p.Val21Phe | |
| NM_001271164.2:c.61G>T | NP_001258093.1:p.Val21Phe | |
| NM_001271166.2:c.-267G>T | NP_001258095.1:n.-267G>T | |
| NM_001271367.2:c.-238G>T | NP_001258296.1:n.-238G>T | |
| NM_001271368.2:c.-237G>T | NP_001258297.1:n.-237G>T | |
| NM_080591.3:c.61G>T | NP_542158.1:p.Val21Phe |