Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713840T>C , CM000663.2:g.114713840T>C | GRCh38 |
| NC_000001.10:g.115256461T>C , CM000663.1:g.115256461T>C | GRCh37 |
| NC_000001.9:g.115057984T>C | NCBI36 |
| NG_007572.1:g.8055A>G , LRG_92:g.8055A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002524.5:c.250A>G MANE Select | NP_002515.1:p.Ile84Val |
| ENST00000369535.5:c.250A>G MANE Select | ENSP00000358548.4:p.Ile84Val |
| NM_002524.4:c.250A>G | NP_002515.1:p.Ile84Val |
| ENST00000369535.4:c.250A>G | ENSP00000358548.4:p.Ile84Val |