Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100734215G>T , CM000676.2:g.100734215G>T | GRCh38 |
| NC_000014.8:g.101200552G>T , CM000676.1:g.101200552G>T | GRCh37 |
| NC_000014.7:g.100270305G>T | NCBI36 |
| NG_016863.2:g.12351G>T | |
| NG_016863.3:g.12351G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341267.9:c.471G>T MANE Select | ENSP00000340292.4:p.Leu157= | |
| ENST00000331224.10:c.471G>T | ENSP00000331081.6:p.Leu157= | |
| ENST00000341267.8:c.471G>T | ENSP00000340292.4:p.Leu157= | |
| NM_003836.5:c.471G>T | NP_003827.3:p.Leu157= | |
| NM_001317172.1:c.471G>T | NP_001304101.1:p.Leu157= | |
| NM_003836.6:c.471G>T | NP_003827.3:p.Leu157= | |
| NM_001317172.2:c.471G>T | NP_001304101.2:p.Leu157= | |
| NM_003836.7:c.471G>T MANE Select | NP_003827.4:p.Leu157= |