Linked Data
dbSNP Id:
rs765025074
ExAC:
3:148863278 C / A
gnomAD v2:
3-148863278-C-A
gnomAD v3:
3-149145491-C-A
gnomAD v4:
3-149145491-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149145491C>A , CM000665.2:g.149145491C>A | GRCh38 |
| NC_000003.11:g.148863278C>A , CM000665.1:g.148863278C>A | GRCh37 |
| NC_000003.10:g.150345968C>A | NCBI36 |
| NG_009847.1:g.20908C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296051.7:c.1108C>A MANE Select | ENSP00000296051.2:p.Pro370Thr | |
| ENST00000296051.6:c.1108C>A | ENSP00000296051.2:p.Pro370Thr | |
| ENST00000460120.5:c.613C>A | ENSP00000418230.1:p.Pro205Thr | |
| ENST00000462030.5:n.1707C>A | ||
| ENST00000486530.1:n.1141C>A | ||
| NM_001308258.1:c.613C>A | NP_001295187.1:p.Pro205Thr | |
| NM_032383.3:c.1108C>A | NP_115759.2:p.Pro370Thr | |
| NM_032383.4:c.1108C>A | NP_115759.2:p.Pro370Thr | |
| XM_005247834.3:c.1108C>A | XP_005247891.1:p.Pro370Thr | |
| XM_006713788.1:c.1108C>A | XP_006713851.1:p.Pro370Thr | |
| XR_924201.1:n.1223C>A | ||
| XM_005247834.4:c.1108C>A | XP_005247891.1:p.Pro370Thr | |
| XM_017007323.2:c.1108C>A | XP_016862812.1:p.Pro370Thr | |
| XR_001740326.2:n.1208C>A | ||
| XR_001740327.2:n.1208C>A | ||
| XR_001740328.2:n.1208C>A | ||
| XR_924201.3:n.1208C>A | ||
| NM_001308258.2:c.613C>A | NP_001295187.1:p.Pro205Thr | |
| NM_032383.5:c.1108C>A MANE Select | NP_115759.2:p.Pro370Thr |