Linked Data
dbSNP Id:
rs1703442506
gnomAD v3:
3-50343162-C-T
gnomAD v4:
3-50343162-C-T
MyVariant Identifiers:
chr3:g.50380593C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50343162C>T , CM000665.2:g.50343162C>T | GRCh38 |
| NC_000003.11:g.50380593C>T , CM000665.1:g.50380593C>T | GRCh37 |
| NC_000003.10:g.50355597C>T | NCBI36 |
| NG_023270.1:g.2775G>A | |
| NG_042828.1:g.7585G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.555G>A MANE Select | ENSP00000231749.3:p.Leu185= | |
| ENST00000231749.7:c.555G>A | ENSP00000231749.3:p.Leu185= | |
| ENST00000360165.7:c.555G>A | ENSP00000353289.3:p.Leu185= | |
| ENST00000442887.1:c.426G>A | ENSP00000393687.1:p.Leu142= | |
| ENST00000443080.5:c.*307G>A | ENSP00000415661.1:n.*307G>A | |
| ENST00000475688.1:n.7G>A | ||
| NM_001308379.1:c.555G>A | NP_001295308.1:p.Leu185= | |
| NM_015896.2:c.555G>A | NP_056980.2:p.Leu185= | |
| NM_015896.3:c.555G>A | NP_056980.2:p.Leu185= | |
| XM_005265216.2:c.318G>A | XP_005265273.1:p.Leu106= | |
| XM_005265216.3:c.318G>A | XP_005265273.1:p.Leu106= | |
| NM_015896.4:c.555G>A MANE Select | NP_056980.2:p.Leu185= | |
| NM_001308379.2:c.555G>A | NP_001295308.1:p.Leu185= |