Linked Data
dbSNP Id:
rs1286305602
gnomAD v3:
3-50345671-T-G
gnomAD v4:
3-50345671-T-G
MyVariant Identifiers:
chr3:g.50383102T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345671T>G , CM000665.2:g.50345671T>G | GRCh38 |
| NC_000003.11:g.50383102T>G , CM000665.1:g.50383102T>G | GRCh37 |
| NC_000003.10:g.50358106T>G | NCBI36 |
| NG_023270.1:g.266A>C | |
| NG_042828.1:g.5076A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.-92A>C MANE Select | ENSP00000231749.3:n.-92A>C | |
| ENST00000231749.7:c.-92A>C | ENSP00000231749.3:n.-92A>C | |
| ENST00000360165.7:c.-92A>C | ENSP00000353289.3:n.-92A>C | |
| ENST00000431869.1:c.-92A>C | ENSP00000391545.1:n.-92A>C | |
| ENST00000442887.1:c.-174A>C | ENSP00000393687.1:n.-174A>C | |
| ENST00000443080.5:c.-92A>C | ENSP00000415661.1:n.-92A>C | |
| ENST00000468182.1:n.11A>C | ||
| NM_001308379.1:c.-92A>C | NP_001295308.1:n.-92A>C | |
| NM_015896.2:c.-92A>C | NP_056980.2:n.-92A>C | |
| NM_015896.3:c.-92A>C | NP_056980.2:n.-92A>C | |
| XM_005265216.2:c.-220A>C | XP_005265273.1:n.-220A>C | |
| XM_005265216.3:c.-220A>C | XP_005265273.1:n.-220A>C | |
| NM_015896.4:c.-92A>C MANE Select | NP_056980.2:n.-92A>C | |
| NM_001308379.2:c.-92A>C | NP_001295308.1:n.-92A>C |