Linked Data
dbSNP Id:
rs1474599857
gnomAD v2:
3-49162565-A-G
gnomAD v3:
3-49125132-A-G
gnomAD v4:
3-49125132-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125132A>G , CM000665.2:g.49125132A>G | GRCh38 |
| NC_000003.11:g.49162565A>G , CM000665.1:g.49162565A>G | GRCh37 |
| NC_000003.10:g.49137569A>G | NCBI36 |
| NG_008094.1:g.13035T>C | |
| NG_054716.1:g.807T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2758T>C MANE Select | ENSP00000307156.4:p.Tyr920His | |
| ENST00000305544.8:c.2758T>C | ENSP00000307156.4:p.Tyr920His | |
| ENST00000418109.5:c.2758T>C | ENSP00000388325.1:p.Tyr920His | |
| ENST00000462930.5:n.165T>C | ||
| ENST00000464891.5:n.491T>C | ||
| ENST00000483057.1:n.358T>C | ||
| ENST00000486298.5:n.463T>C | ||
| ENST00000542580.1:n.73T>C | ||
| NM_002292.3:c.2758T>C | NP_002283.3:p.Tyr920His | |
| XM_005265127.3:c.2758T>C | XP_005265184.1:p.Tyr920His | |
| XM_005265127.4:c.2758T>C | XP_005265184.1:p.Tyr920His | |
| NM_002292.4:c.2758T>C MANE Select | NP_002283.3:p.Tyr920His |