Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73201184G>C , CM000679.2:g.73201184G>C | GRCh38 |
| NC_000017.10:g.71197323G>C , CM000679.1:g.71197323G>C | GRCh37 |
| NC_000017.9:g.68708918G>C | NCBI36 |
| NG_008971.1:g.13151G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.9:c.1357G>C MANE Select | ENSP00000299886.4:p.Glu453Gln | |
| ENST00000299886.8:c.1357G>C | ENSP00000299886.4:p.Glu453Gln | |
| ENST00000438720.7:c.1355G>C | ||
| ENST00000618996.4:c.1357G>C | ENSP00000479450.1:p.Glu453Gln | |
| NM_018714.2:c.1357G>C | NP_061184.1:p.Glu453Gln | |
| NM_018714.3:c.1357G>C MANE Select | NP_061184.1:p.Glu453Gln |