Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993232C>G , CM000678.2:g.30993232C>G | GRCh38 |
| NC_000016.9:g.31004553C>G , CM000678.1:g.31004553C>G | GRCh37 |
| NC_000016.8:g.30912054C>G | NCBI36 |
| NG_041829.1:g.22277G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.684G>C MANE Select | ENSP00000215095.5:p.Met228Ile | |
| ENST00000565419.2:c.684G>C | ENSP00000455899.1:p.Met228Ile | |
| ENST00000215095.9:c.684G>C | ENSP00000215095.5:p.Met228Ile | |
| ENST00000565419.1:c.684G>C | ENSP00000455899.1:p.Met228Ile | |
| ENST00000569638.5:c.432G>C | ENSP00000457067.1:p.Met144Ile | |
| NM_052874.4:c.684G>C | NP_443106.1:p.Met228Ile | |
| XM_017022893.1:c.666G>C | XP_016878382.1:p.Met222Ile | |
| NM_052874.5:c.684G>C MANE Select | NP_443106.1:p.Met228Ile |