Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290984G>C , CM000668.2:g.24290984G>C | GRCh38 |
| NC_000006.11:g.24291212G>C , CM000668.1:g.24291212G>C | GRCh37 |
| NC_000006.10:g.24399191G>C | NCBI36 |
| NG_012829.1:g.72069C>G | |
| NG_012829.2:g.97309C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016356.5:c.652C>G MANE Select | NP_057440.2:p.Leu218Val |
| ENST00000378454.8:c.652C>G MANE Select | ENSP00000367715.3:p.Leu218Val |
| NM_001195610.1:c.652C>G | NP_001182539.1:p.Leu218Val |
| NM_001195610.2:c.652C>G | NP_001182539.1:p.Leu218Val |
| NM_016356.4:c.652C>G | NP_057440.2:p.Leu218Val |
| ENST00000378454.7:c.652C>G | ENSP00000367715.3:p.Leu218Val |