gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965603C>G , CM000670.2:g.37965603C>G | GRCh38 |
| NC_000008.10:g.37823121C>G , CM000670.1:g.37823121C>G | GRCh37 |
| NC_000008.9:g.37942278C>G | NCBI36 |
| NG_011936.1:g.6064G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.867G>C MANE Select | ENSP00000343782.3:p.Arg289= | |
| ENST00000520341.2:n.995G>C | ||
| ENST00000647937.1:c.351G>C | ENSP00000497740.1:p.Arg117= | |
| ENST00000345060.4:c.867G>C | ENSP00000343782.3:p.Arg289= | |
| ENST00000520341.1:n.142G>C | ||
| ENST00000614635.1:c.867G>C | ENSP00000480325.1:p.Arg289= | |
| NM_000025.2:c.867G>C | NP_000016.1:p.Arg289= | |
| NM_000025.3:c.867G>C MANE Select | NP_000016.1:p.Arg289= |