Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174725058G>C , CM000667.2:g.174725058G>C | GRCh38 |
| NC_000005.9:g.174152061G>C , CM000667.1:g.174152061G>C | GRCh37 |
| NC_000005.8:g.174084667G>C | NCBI36 |
| NG_008124.1:g.5487G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.379+20G>C MANE Select | ENSP00000239243.5:n.379+20G>C | |
| ENST00000239243.6:c.379+20G>C | ENSP00000239243.5:n.379+20G>C | |
| ENST00000507785.2:c.399G>C | ENSP00000427425.1:p.Gln133His | |
| NM_002449.4:c.379+20G>C | NP_002440.2:n.379+20G>C | |
| NM_001363626.1:c.399G>C | NP_001350555.1:p.Gln133His | |
| NM_002449.5:c.379+20G>C MANE Select | NP_002440.2:n.379+20G>C | |
| NM_001363626.2:c.399G>C | NP_001350555.1:p.Gln133His |