Linked Data
dbSNP Id:
rs3842787
ExAC:
9:125133507 C / T
gnomAD v2:
9-125133507-C-T
gnomAD v3:
9-122371228-C-T
gnomAD v4:
9-122371228-C-T
COSMIC:
COSM3763594
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.122371228C>T , CM000671.2:g.122371228C>T | GRCh38 |
| NC_000009.11:g.125133507C>T , CM000671.1:g.125133507C>T | GRCh37 |
| NC_000009.10:g.124173328C>T | NCBI36 |
| NG_032900.1:g.5279C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362012.7:c.50C>T MANE Select | ENSP00000354612.2:p.Pro17Leu | |
| ENST00000426608.6:c.50C>T | ENSP00000411606.2:p.Pro17Leu | |
| ENST00000540753.6:c.-248C>T | ENSP00000437709.1:n.-248C>T | |
| ENST00000619306.5:c.50C>T | ENSP00000483540.2:p.Pro17Leu | |
| ENST00000643576.1:n.144C>T | ||
| ENST00000643810.1:c.-278C>T | ENSP00000494717.1:n.-278C>T | |
| ENST00000645132.1:n.217C>T | ||
| ENST00000647067.1:c.50C>T | ENSP00000495728.1:p.Pro17Leu | |
| ENST00000223423.8:c.50C>T | ENSP00000223423.4:p.Pro17Leu | |
| ENST00000362012.6:c.50C>T | ENSP00000354612.2:p.Pro17Leu | |
| ENST00000426608.5:c.41C>T | ENSP00000411606.1:p.Pro14Leu | |
| ENST00000540753.5:c.-248C>T | ENSP00000437709.1:n.-248C>T | |
| ENST00000614910.4:c.50C>T | ENSP00000484800.1:p.Pro17Leu | |
| ENST00000619306.4:c.143C>T | ENSP00000483540.1:p.Pro48Leu | |
| NM_000962.3:c.50C>T | NP_000953.2:p.Pro17Leu | |
| NM_001271164.1:c.50C>T | NP_001258093.1:p.Pro17Leu | |
| NM_001271166.1:c.-278C>T | NP_001258095.1:n.-278C>T | |
| NM_001271367.1:c.-249C>T | NP_001258296.1:n.-249C>T | |
| NM_001271368.1:c.-248C>T | NP_001258297.1:n.-248C>T | |
| NM_080591.2:c.50C>T | NP_542158.1:p.Pro17Leu | |
| XM_005252105.2:c.-248C>T | XP_005252162.1:n.-248C>T | |
| XM_011518875.1:c.-248C>T | XP_011517177.1:n.-248C>T | |
| XM_011518876.1:c.-4110C>T | XP_011517178.1:n.-4110C>T | |
| XM_005252105.3:c.-248C>T | XP_005252162.1:n.-248C>T | |
| XM_011518875.2:c.-248C>T | XP_011517177.1:n.-248C>T | |
| XM_011518876.2:c.-4110C>T | XP_011517178.1:n.-4110C>T | |
| XM_024447614.1:c.-278C>T | XP_024303382.1:n.-278C>T | |
| XM_024447615.1:c.-278C>T | XP_024303383.1:n.-278C>T | |
| NM_000962.4:c.50C>T MANE Select | NP_000953.2:p.Pro17Leu | |
| NM_001271164.2:c.50C>T | NP_001258093.1:p.Pro17Leu | |
| NM_001271166.2:c.-278C>T | NP_001258095.1:n.-278C>T | |
| NM_001271367.2:c.-249C>T | NP_001258296.1:n.-249C>T | |
| NM_001271368.2:c.-248C>T | NP_001258297.1:n.-248C>T | |
| NM_080591.3:c.50C>T | NP_542158.1:p.Pro17Leu |