Linked Data
dbSNP Id:
rs750836116
gnomAD v2:
18-21456267-C-A
gnomAD v3:
18-23876303-C-A
gnomAD v4:
18-23876303-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23876303C>A , CM000680.2:g.23876303C>A | GRCh38 |
| NC_000018.9:g.21456267C>A , CM000680.1:g.21456267C>A | GRCh37 |
| NC_000018.8:g.19710265C>A | NCBI36 |
| NG_007853.2:g.191706C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.181C>A MANE Plus Clinical | ENSP00000269217.5:p.Pro61Thr | |
| ENST00000313654.14:c.5008C>A MANE Select | ENSP00000324532.8:p.Pro1670Thr | |
| ENST00000649721.1:c.1900C>A | ENSP00000497885.1:p.Pro634Thr | |
| ENST00000269217.10:c.181C>A | ENSP00000269217.5:p.Pro61Thr | |
| ENST00000313654.13:c.5008C>A | ENSP00000324532.8:p.Pro1670Thr | |
| ENST00000399516.7:c.5008C>A | ENSP00000382432.2:p.Pro1670Thr | |
| ENST00000587184.5:c.181C>A | ENSP00000466557.1:p.Pro61Thr | |
| NM_000227.4:c.181C>A | NP_000218.3:p.Pro61Thr | |
| NM_001127717.2:c.5008C>A | NP_001121189.2:p.Pro1670Thr | |
| NM_001127718.2:c.181C>A | NP_001121190.2:p.Pro61Thr | |
| NM_198129.2:c.5008C>A | NP_937762.2:p.Pro1670Thr | |
| XM_011525978.1:c.5035C>A | XP_011524280.1:p.Pro1679Thr | |
| XM_011525979.1:c.5026C>A | XP_011524281.1:p.Pro1676Thr | |
| XM_011525980.1:c.5017C>A | XP_011524282.1:p.Pro1673Thr | |
| XM_011525981.1:c.4903C>A | XP_011524283.1:p.Pro1635Thr | |
| XM_011525982.1:c.5035C>A | XP_011524284.1:p.Pro1679Thr | |
| XM_011525978.2:c.5035C>A | XP_011524280.1:p.Pro1679Thr | |
| XM_011525979.2:c.5026C>A | XP_011524281.1:p.Pro1676Thr | |
| XM_011525980.2:c.5017C>A | XP_011524282.1:p.Pro1673Thr | |
| XM_011525981.2:c.4903C>A | XP_011524283.1:p.Pro1635Thr | |
| XM_011525982.2:c.5035C>A | XP_011524284.1:p.Pro1679Thr | |
| XM_017025743.1:c.2887C>A | XP_016881232.1:p.Pro963Thr | |
| XM_017025744.1:c.577C>A | XP_016881233.1:p.Pro193Thr | |
| XR_001753199.1:n.5276C>A | ||
| NM_000227.5:c.181C>A | NP_000218.3:p.Pro61Thr | |
| NM_001127717.3:c.5008C>A | NP_001121189.2:p.Pro1670Thr | |
| NM_001127718.3:c.181C>A | NP_001121190.2:p.Pro61Thr | |
| NM_198129.3:c.5008C>A | NP_937762.2:p.Pro1670Thr | |
| NM_000227.6:c.181C>A MANE Plus Clinical | NP_000218.3:p.Pro61Thr | |
| NM_001127717.4:c.5008C>A | NP_001121189.2:p.Pro1670Thr | |
| NM_001127718.4:c.181C>A | NP_001121190.2:p.Pro61Thr | |
| NM_198129.4:c.5008C>A MANE Select | NP_937762.2:p.Pro1670Thr |