Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46376608G>C , CM000664.2:g.46376608G>C | GRCh38 |
| NC_000002.11:g.46603747G>C , CM000664.1:g.46603747G>C | GRCh37 |
| NC_000002.10:g.46457251G>C | NCBI36 |
| NG_016000.1:g.84207G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263734.5:c.1104G>C MANE Select | ENSP00000263734.3:p.Met368Ile | |
| ENST00000263734.4:c.1104G>C | ENSP00000263734.3:p.Met368Ile | |
| ENST00000483692.1:n.272G>C | ||
| NM_001430.4:c.1104G>C | NP_001421.2:p.Met368Ile | |
| XM_011532698.1:c.1143G>C | XP_011531000.1:p.Met381Ile | |
| XM_011532698.2:c.1143G>C | XP_011531000.1:p.Met381Ile | |
| NM_001430.5:c.1104G>C MANE Select | NP_001421.2:p.Met368Ile |