gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25156857A>G , CM000666.2:g.25156857A>G | GRCh38 |
| NC_000004.11:g.25158479A>G , CM000666.1:g.25158479A>G | GRCh37 |
| NC_000004.10:g.24767577A>G | NCBI36 |
| NG_028222.1:g.8726T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.387T>C MANE Select | ENSP00000371535.2:p.Ala129= | |
| ENST00000680581.1:c.387T>C | ENSP00000506483.1:p.Ala129= | |
| ENST00000680824.1:n.1603T>C | ||
| ENST00000681071.1:n.679T>C | ||
| ENST00000681166.1:n.1434T>C | ||
| ENST00000681341.1:n.1528T>C | ||
| ENST00000681640.1:n.481T>C | ||
| ENST00000681948.1:c.642T>C | ENSP00000505991.1:p.Ala214= | |
| ENST00000358971.7:c.*185T>C | ENSP00000351857.3:n.*185T>C | |
| ENST00000382103.6:c.387T>C | ENSP00000371535.2:p.Ala129= | |
| ENST00000514585.5:c.*88T>C | ENSP00000421880.1:n.*88T>C | |
| NM_016955.3:c.387T>C | NP_058651.3:p.Ala129= | |
| XM_005248168.2:c.150T>C | XP_005248225.1:p.Ala50= | |
| XM_006713965.2:c.207T>C | XP_006714028.1:p.Ala69= | |
| XM_011513846.1:c.384T>C | XP_011512148.1:p.Ala128= | |
| XM_011513847.1:c.354T>C | XP_011512149.1:p.Ala118= | |
| XM_011513848.1:c.207T>C | XP_011512150.1:p.Ala69= | |
| XM_011513846.2:c.384T>C | XP_011512148.1:p.Ala128= | |
| XM_011513847.2:c.354T>C | XP_011512149.1:p.Ala118= | |
| XM_017008277.1:c.642T>C | XP_016863766.1:p.Ala214= | |
| XM_017008278.1:c.-37T>C | XP_016863767.1:n.-37T>C | |
| NM_016955.4:c.387T>C MANE Select | NP_058651.3:p.Ala129= |