Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144474975G>T , CM000670.2:g.144474975G>T | GRCh38 |
| NC_000008.10:g.145700358G>T , CM000670.1:g.145700358G>T | GRCh37 |
| NC_000008.9:g.145671166G>T | NCBI36 |
| NG_030003.1:g.6361C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377317.5:c.361C>A MANE Select | ENSP00000366534.4:p.Arg121= | |
| ENST00000377317.4:c.361C>A | ENSP00000366534.4:p.Arg121= | |
| ENST00000525197.1:n.390C>A | ||
| NM_003923.2:c.361C>A | NP_003914.1:p.Arg121= | |
| NM_003923.3:c.361C>A MANE Select | NP_003914.1:p.Arg121= |