gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006731 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00006704 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88056205T>C , CM000666.2:g.88056205T>C | GRCh38 |
| NC_000004.11:g.88977357T>C , CM000666.1:g.88977357T>C | GRCh37 |
| NC_000004.10:g.89196381T>C | NCBI36 |
| NG_008604.1:g.53538T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.1836T>C MANE Select | ENSP00000237596.2:p.Ala612= | |
| ENST00000237596.6:c.1836T>C | ENSP00000237596.2:p.Ala612= | |
| ENST00000502363.1:c.90T>C | ENSP00000425289.1:p.Ala30= | |
| ENST00000508588.5:c.90T>C | ENSP00000427131.1:p.Ala30= | |
| ENST00000511337.5:n.209T>C | ||
| ENST00000512858.1:n.169T>C | ||
| NM_000297.3:c.1836T>C | NP_000288.1:p.Ala612= | |
| XM_011532028.1:c.1611T>C | XP_011530330.1:p.Ala537= | |
| XM_011532029.1:c.1116T>C | XP_011530331.1:p.Ala372= | |
| XM_011532030.1:c.996T>C | XP_011530332.1:p.Ala332= | |
| XR_244632.2:n.1931T>C | ||
| NR_156488.1:n.1923T>C | ||
| XM_011532028.2:c.1611T>C | XP_011530330.1:p.Ala537= | |
| XM_011532030.2:c.996T>C | XP_011530332.1:p.Ala332= | |
| NM_000297.4:c.1836T>C MANE Select | NP_000288.1:p.Ala612= | |
| NR_156488.2:n.1935T>C |