Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48750934C>G , CM000681.2:g.48750934C>G | GRCh38 |
| NC_000019.9:g.49254191C>G , CM000681.1:g.49254191C>G | GRCh37 |
| NC_000019.8:g.53946003C>G | NCBI36 |
| NG_007510.1:g.9457G>C | |
| NG_007510.2:g.9457G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645652.2:c.348G>C MANE Select | ENSP00000494643.1:p.Met116Ile | |
| ENST00000310160.7:c.348G>C | ENSP00000312021.3:p.Met116Ile | |
| NM_000148.3:c.348G>C | NP_000139.1:p.Met116Ile | |
| XM_006723127.1:c.717G>C | XP_006723190.1:p.Met239Ile | |
| NM_001329877.1:c.348G>C | NP_001316806.1:p.Met116Ile | |
| NM_000148.4:c.348G>C | NP_000139.1:p.Met116Ile | |
| NM_001384359.1:c.348G>C MANE Select | NP_001371288.1:p.Met116Ile |