gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211208G>A , CM000673.2:g.66211208G>A | GRCh38 |
| NC_000011.9:g.65978679G>A , CM000673.1:g.65978679G>A | GRCh37 |
| NC_000011.8:g.65735255G>A | NCBI36 |
| NG_033900.1:g.145856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.609G>A MANE Select | ENSP00000316454.4:p.Arg203= | |
| ENST00000320580.8:c.609G>A | ENSP00000316454.4:p.Arg203= | |
| ENST00000527224.1:n.733G>A | ||
| ENST00000527380.1:c.315G>A | ENSP00000432639.1:p.Arg105= | |
| ENST00000533756.5:c.300G>A | ENSP00000437150.1:p.Arg100= | |
| NM_018026.3:c.609G>A | NP_060496.2:p.Arg203= | |
| XM_011545162.1:c.288G>A | XP_011543464.1:p.Arg96= | |
| XM_011545163.1:c.279G>A | XP_011543465.1:p.Arg93= | |
| XM_011545164.1:c.270G>A | XP_011543466.1:p.Arg90= | |
| XM_011545164.2:c.270G>A | XP_011543466.1:p.Arg90= | |
| XR_001747924.1:n.820G>A | ||
| NM_018026.4:c.609G>A MANE Select | NP_060496.2:p.Arg203= |