Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227070C>G , CM000664.2:g.29227070C>G | GRCh38 |
| NC_000002.11:g.29449936C>G , CM000664.1:g.29449936C>G | GRCh37 |
| NC_000002.10:g.29303440C>G | NCBI36 |
| NG_009445.1:g.699497G>C , LRG_488:g.699497G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2919G>C MANE Select | ENSP00000373700.3:p.Met973Ile | |
| ENST00000431873.6:c.85G>C | ||
| ENST00000389048.7:c.2919G>C | ENSP00000373700.3:p.Met973Ile | |
| ENST00000618119.4:c.1788G>C | ENSP00000482733.1:p.Met596Ile | |
| NM_004304.4:c.2919G>C | NP_004295.2:p.Met973Ile | |
| XM_024452778.1:c.72G>C | XP_024308546.1:p.Met24Ile | |
| XR_001738688.2:n.3775G>C | ||
| NM_004304.5:c.2919G>C MANE Select | NP_004295.2:p.Met973Ile |