Linked Data
dbSNP Id:
rs769945754
ExAC:
3:50380352 C / T
gnomAD v2:
3-50380352-C-T
gnomAD v4:
3-50342921-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50342921C>T , CM000665.2:g.50342921C>T | GRCh38 |
| NC_000003.11:g.50380352C>T , CM000665.1:g.50380352C>T | GRCh37 |
| NC_000003.10:g.50355356C>T | NCBI36 |
| NG_023270.1:g.3016G>A | |
| NG_042828.1:g.7826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.697G>A MANE Select | ENSP00000231749.3:p.Gly233Arg | |
| ENST00000231749.7:c.697G>A | ENSP00000231749.3:p.Gly233Arg | |
| ENST00000360165.7:c.599+197G>A | ENSP00000353289.3:n.599+197G>A | |
| ENST00000442887.1:c.568G>A | ENSP00000393687.1:p.Gly190Arg | |
| ENST00000443080.5:c.*449G>A | ENSP00000415661.1:n.*449G>A | |
| ENST00000475688.1:n.248G>A | ||
| NM_001308379.1:c.599+197G>A | NP_001295308.1:n.599+197G>A | |
| NM_015896.2:c.697G>A | NP_056980.2:p.Gly233Arg | |
| NM_015896.3:c.697G>A | NP_056980.2:p.Gly233Arg | |
| XM_005265216.2:c.460G>A | XP_005265273.1:p.Gly154Arg | |
| XM_005265216.3:c.460G>A | XP_005265273.1:p.Gly154Arg | |
| NM_015896.4:c.697G>A MANE Select | NP_056980.2:p.Gly233Arg | |
| NM_001308379.2:c.599+197G>A | NP_001295308.1:n.599+197G>A |