Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887117C>G , CM000681.2:g.12887117C>G | GRCh38 |
| NC_000019.9:g.12997931C>G , CM000681.1:g.12997931C>G | GRCh37 |
| NC_000019.8:g.12858931C>G | NCBI36 |
| NG_009292.1:g.958C>G | |
| NG_013087.1:g.5087G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.24G>C MANE Select | ENSP00000264834.3:p.Leu8Phe | |
| ENST00000264834.4:c.24G>C | ENSP00000264834.3:p.Leu8Phe | |
| NM_006563.3:c.24G>C | NP_006554.1:p.Leu8Phe | |
| XM_011527642.1:c.-180G>C | XP_011525944.1:n.-180G>C | |
| NM_006563.4:c.24G>C | NP_006554.1:p.Leu8Phe | |
| XM_011527642.2:c.-180G>C | XP_011525944.1:n.-180G>C | |
| NM_006563.5:c.24G>C MANE Select | NP_006554.1:p.Leu8Phe |