Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3518087T>G , CM000666.2:g.3518087T>G | GRCh38 |
| NC_000004.11:g.3519814T>G , CM000666.1:g.3519814T>G | GRCh37 |
| NC_000004.10:g.3489612T>G | NCBI36 |
| NG_033873.1:g.19411A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648517.1:c.698A>C | ENSP00000496947.1:p.Gln233Pro | |
| ENST00000650182.1:c.698A>C MANE Select | ENSP00000497444.1:p.Gln233Pro | |
| ENST00000296325.9:n.661A>C | ||
| ENST00000500728.2:c.698A>C | ENSP00000421922.1:p.Gln233Pro | |
| ENST00000509198.1:n.744A>C | ||
| ENST00000515119.5:c.*475A>C | ENSP00000421648.1:n.*475A>C | |
| NM_002337.3:c.698A>C | NP_002328.1:p.Gln233Pro | |
| NR_110005.1:n.661A>C | ||
| NM_002337.4:c.698A>C MANE Select | NP_002328.1:p.Gln233Pro | |
| XR_002959730.1:n.783A>C | ||
| NR_110005.2:n.661A>C |