Linked Data
dbSNP Id:
rs199745411
ExAC:
3:50382943 G / A
gnomAD v2:
3-50382943-G-A
gnomAD v3:
3-50345512-G-A
gnomAD v4:
3-50345512-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345512G>A , CM000665.2:g.50345512G>A | GRCh38 |
| NC_000003.11:g.50382943G>A , CM000665.1:g.50382943G>A | GRCh37 |
| NC_000003.10:g.50357947G>A | NCBI36 |
| NG_023270.1:g.425C>T | |
| NG_042828.1:g.5235C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.68C>T MANE Select | ENSP00000231749.3:p.Pro23Leu | |
| ENST00000231749.7:c.68C>T | ENSP00000231749.3:p.Pro23Leu | |
| ENST00000360165.7:c.68C>T | ENSP00000353289.3:p.Pro23Leu | |
| ENST00000431869.1:c.68C>T | ENSP00000391545.1:p.Pro23Leu | |
| ENST00000442887.1:c.-38+23C>T | ENSP00000393687.1:n.-38+23C>T | |
| ENST00000443080.5:c.68C>T | ENSP00000415661.1:p.Pro23Leu | |
| ENST00000468182.1:n.170C>T | ||
| NM_001308379.1:c.68C>T | NP_001295308.1:p.Pro23Leu | |
| NM_015896.2:c.68C>T | NP_056980.2:p.Pro23Leu | |
| NM_015896.3:c.68C>T | NP_056980.2:p.Pro23Leu | |
| XM_005265216.2:c.-61C>T | XP_005265273.1:n.-61C>T | |
| XM_005265216.3:c.-61C>T | XP_005265273.1:n.-61C>T | |
| NM_015896.4:c.68C>T MANE Select | NP_056980.2:p.Pro23Leu | |
| NM_001308379.2:c.68C>T | NP_001295308.1:p.Pro23Leu |