Linked Data
dbSNP Id:
rs751111486
ExAC:
3:58416575 A / G
gnomAD v2:
3-58416575-A-G
gnomAD v4:
3-58430848-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58430848A>G , CM000665.2:g.58430848A>G | GRCh38 |
| NC_000003.11:g.58416575A>G , CM000665.1:g.58416575A>G | GRCh37 |
| NC_000003.10:g.58391615A>G | NCBI36 |
| NG_016860.1:g.8005T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302746.11:c.398T>C MANE Select | ENSP00000307241.6:p.Met133Thr | |
| ENST00000302746.10:c.398T>C | ENSP00000307241.6:p.Met133Thr | |
| ENST00000383714.8:c.344T>C | ENSP00000373220.4:p.Met115Thr | |
| ENST00000461692.5:n.511T>C | ||
| ENST00000469364.5:c.398T>C | ENSP00000419580.1:p.Met133Thr | |
| ENST00000474765.1:c.344T>C | ENSP00000418448.1:p.Met115Thr | |
| ENST00000479945.1:n.2803T>C | ||
| ENST00000480626.5:n.490T>C | ||
| ENST00000485460.5:c.398T>C | ENSP00000417267.1:p.Met133Thr | |
| NM_000925.3:c.398T>C | NP_000916.2:p.Met133Thr | |
| NM_001173468.1:c.398T>C | NP_001166939.1:p.Met133Thr | |
| NM_001315536.1:c.344T>C | NP_001302465.1:p.Met115Thr | |
| NR_033384.1:n.511T>C | ||
| NM_000925.4:c.398T>C MANE Select | NP_000916.2:p.Met133Thr | |
| NM_001173468.2:c.398T>C | NP_001166939.1:p.Met133Thr | |
| NM_001315536.2:c.344T>C | NP_001302465.1:p.Met115Thr | |
| NR_033384.2:n.504T>C |