Linked Data
dbSNP Id:
rs768567177
ExAC:
4:25158495 T / G
gnomAD v2:
4-25158495-T-G
gnomAD v4:
4-25156873-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25156873T>G , CM000666.2:g.25156873T>G | GRCh38 |
| NC_000004.11:g.25158495T>G , CM000666.1:g.25158495T>G | GRCh37 |
| NC_000004.10:g.24767593T>G | NCBI36 |
| NG_028222.1:g.8710A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.371A>C MANE Select | ENSP00000371535.2:p.Asp124Ala | |
| ENST00000680581.1:c.371A>C | ENSP00000506483.1:p.Asp124Ala | |
| ENST00000680824.1:n.1587A>C | ||
| ENST00000681071.1:n.663A>C | ||
| ENST00000681166.1:n.1418A>C | ||
| ENST00000681341.1:n.1512A>C | ||
| ENST00000681640.1:n.465A>C | ||
| ENST00000681948.1:c.626A>C | ENSP00000505991.1:p.Asp209Ala | |
| ENST00000358971.7:c.*169A>C | ENSP00000351857.3:n.*169A>C | |
| ENST00000382103.6:c.371A>C | ENSP00000371535.2:p.Asp124Ala | |
| ENST00000514585.5:c.*72A>C | ENSP00000421880.1:n.*72A>C | |
| NM_016955.3:c.371A>C | NP_058651.3:p.Asp124Ala | |
| XM_005248168.2:c.134A>C | XP_005248225.1:p.Asp45Ala | |
| XM_006713965.2:c.191A>C | XP_006714028.1:p.Asp64Ala | |
| XM_011513846.1:c.368A>C | XP_011512148.1:p.Asp123Ala | |
| XM_011513847.1:c.338A>C | XP_011512149.1:p.Asp113Ala | |
| XM_011513848.1:c.191A>C | XP_011512150.1:p.Asp64Ala | |
| XM_011513846.2:c.368A>C | XP_011512148.1:p.Asp123Ala | |
| XM_011513847.2:c.338A>C | XP_011512149.1:p.Asp113Ala | |
| XM_017008277.1:c.626A>C | XP_016863766.1:p.Asp209Ala | |
| XM_017008278.1:c.-53A>C | XP_016863767.1:n.-53A>C | |
| NM_016955.4:c.371A>C MANE Select | NP_058651.3:p.Asp124Ala |