Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228174692G>C , CM000663.2:g.228174692G>C | GRCh38 |
| NC_000001.10:g.228362393G>C , CM000663.1:g.228362393G>C | GRCh37 |
| NC_000001.9:g.226429016G>C | NCBI36 |
| NG_042231.1:g.13885G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001010867.4:c.342G>C MANE Select | NP_001010867.1:p.Gly114= |
| ENST00000366711.4:c.342G>C MANE Select | ENSP00000355672.3:p.Gly114= |
| NM_001010867.2:c.342G>C | NP_001010867.1:p.Gly114= |
| NM_001010867.3:c.342G>C | NP_001010867.1:p.Gly114= |
| NM_001310327.1:c.-238G>C | NP_001297256.1:n.-238G>C |
| NM_001310327.2:c.-238G>C | NP_001297256.1:n.-238G>C |
| ENST00000366711.3:c.342G>C | ENSP00000355672.3:p.Gly114= |
| ENST00000484749.5:n.2342G>C | |
| ENST00000546123.2:n.62G>C | |
| XM_006711753.2:c.342G>C | XP_006711816.1:p.Gly114= |