Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.130162987G>C , CM000674.2:g.130162987G>C | GRCh38 |
| NC_000012.11:g.130647532G>C , CM000674.1:g.130647532G>C | GRCh37 |
| NC_000012.10:g.129213485G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007197.4:c.45G>C MANE Select | NP_009128.1:p.Met15Ile |
| ENST00000229030.5:c.45G>C MANE Select | ENSP00000229030.4:p.Met15Ile |
| NM_007197.3:c.45G>C | NP_009128.1:p.Met15Ile |
| ENST00000229030.4:c.45G>C | ENSP00000229030.4:p.Met15Ile |
| ENST00000539839.1:c.-54G>C | ENSP00000438460.1:n.-54G>C |