Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145371G>C , CM000668.2:g.6145371G>C | GRCh38 |
| NC_000006.11:g.6145604G>C , CM000668.1:g.6145604G>C | GRCh37 |
| NC_000006.10:g.6090603G>C | NCBI36 |
| NG_008107.1:g.180321C>G , LRG_549:g.180321C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.*248C>G MANE Select | ENSP00000264870.3:n.*248C>G | |
| ENST00000264870.7:c.*248C>G | ENSP00000264870.3:n.*248C>G | |
| NM_000129.3:c.*248C>G , LRG_549t1:c.*248C>G | NP_000120.2:n.*248C>G | |
| XM_006715010.2:c.*248C>G | XP_006715073.1:n.*248C>G | |
| XM_011514342.1:c.*248C>G | XP_011512644.1:n.*248C>G | |
| NM_000129.4:c.*248C>G MANE Select | NP_000120.2:n.*248C>G |