gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.146874765G>A , CM000666.2:g.146874765G>A | GRCh38 |
| NC_000004.11:g.147795917G>A , CM000666.1:g.147795917G>A | GRCh37 |
| NC_000004.10:g.148015367G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325106.9:c.750C>T MANE Select | ENSP00000316740.4:p.Tyr250= | |
| ENST00000325106.8:c.750C>T | ENSP00000316740.4:p.Tyr250= | |
| ENST00000398886.8:c.750C>T | ENSP00000381861.5:p.Tyr250= | |
| ENST00000504425.5:c.750C>T | ENSP00000425778.1:p.Tyr250= | |
| ENST00000508306.5:c.750C>T | ENSP00000422648.1:p.Tyr250= | |
| ENST00000513335.5:c.828C>T | ENSP00000423505.1:p.Tyr276= | |
| NM_001300761.1:c.828C>T | NP_001287690.1:p.Tyr276= | |
| NM_031956.2:c.750C>T | NP_114162.2:p.Tyr250= | |
| XM_005263270.1:c.828C>T | XP_005263327.1:p.Tyr276= | |
| XM_006714335.1:c.828C>T | XP_006714398.1:p.Tyr276= | |
| XM_006714336.1:c.828C>T | XP_006714399.1:p.Tyr276= | |
| XM_006714338.1:c.750C>T | XP_006714401.1:p.Tyr250= | |
| XM_006714339.1:c.642C>T | XP_006714402.1:p.Tyr214= | |
| XM_011532310.1:c.828C>T | XP_011530612.1:p.Tyr276= | |
| XR_427552.1:n.1064C>T | ||
| XR_938777.1:n.1064C>T | ||
| XR_938778.1:n.1064C>T | ||
| XR_938779.1:n.945C>T | ||
| NM_001300761.2:c.828C>T | NP_001287690.1:p.Tyr276= | |
| NM_001317806.1:c.750C>T | NP_001304735.1:p.Tyr250= | |
| NM_031956.3:c.750C>T | NP_114162.2:p.Tyr250= | |
| NR_133922.1:n.981C>T | ||
| XM_006714339.2:c.642C>T | XP_006714402.1:p.Tyr214= | |
| XM_011532310.2:c.828C>T | XP_011530612.1:p.Tyr276= | |
| XM_024454241.1:c.564C>T | XP_024310009.1:p.Tyr188= | |
| NM_001300761.3:c.828C>T | NP_001287690.1:p.Tyr276= | |
| NM_001317806.2:c.750C>T | NP_001304735.1:p.Tyr250= | |
| NR_133922.2:n.959C>T | ||
| NM_001300761.4:c.828C>T | NP_001287690.1:p.Tyr276= | |
| NM_001317806.3:c.750C>T | NP_001304735.1:p.Tyr250= | |
| NM_031956.4:c.750C>T MANE Select | NP_114162.2:p.Tyr250= | |
| NR_133922.3:n.959C>T |