Linked Data
dbSNP Id:
rs751687424
ExAC:
3:49160244 T / C
gnomAD v2:
3-49160244-T-C
gnomAD v3:
3-49122811-T-C
gnomAD v4:
3-49122811-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49122811T>C , CM000665.2:g.49122811T>C | GRCh38 |
| NC_000003.11:g.49160244T>C , CM000665.1:g.49160244T>C | GRCh37 |
| NC_000003.10:g.49135248T>C | NCBI36 |
| NG_008094.1:g.15356A>G | |
| NG_054716.1:g.3128A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.4466A>G MANE Select | ENSP00000307156.4:p.Gln1489Arg | |
| ENST00000305544.8:c.4466A>G | ENSP00000307156.4:p.Gln1489Arg | |
| ENST00000418109.5:c.4466A>G | ENSP00000388325.1:p.Gln1489Arg | |
| ENST00000469665.1:n.775A>G | ||
| NM_002292.3:c.4466A>G | NP_002283.3:p.Gln1489Arg | |
| XM_005265127.3:c.4466A>G | XP_005265184.1:p.Gln1489Arg | |
| XM_005265127.4:c.4466A>G | XP_005265184.1:p.Gln1489Arg | |
| NM_002292.4:c.4466A>G MANE Select | NP_002283.3:p.Gln1489Arg |