gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88038323C>A , CM000666.2:g.88038323C>A | GRCh38 |
| NC_000004.11:g.88959475C>A , CM000666.1:g.88959475C>A | GRCh37 |
| NC_000004.10:g.89178499C>A | NCBI36 |
| NG_008604.1:g.35656C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.916C>A MANE Select | ENSP00000237596.2:p.Arg306= | |
| ENST00000237596.6:c.916C>A | ENSP00000237596.2:p.Arg306= | |
| ENST00000506367.1:n.363C>A | ||
| ENST00000506727.1:n.502C>A | ||
| NM_000297.3:c.916C>A | NP_000288.1:p.Arg306= | |
| XM_011532028.1:c.916C>A | XP_011530330.1:p.Arg306= | |
| XM_011532029.1:c.196C>A | XP_011530331.1:p.Arg66= | |
| XM_011532030.1:c.76C>A | XP_011530332.1:p.Arg26= | |
| XR_244632.2:n.1011C>A | ||
| NR_156488.1:n.1003C>A | ||
| XM_011532028.2:c.916C>A | XP_011530330.1:p.Arg306= | |
| XM_011532030.2:c.76C>A | XP_011530332.1:p.Arg26= | |
| NM_000297.4:c.916C>A MANE Select | NP_000288.1:p.Arg306= | |
| NR_156488.2:n.1015C>A |