Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541521T>C , CM000664.2:g.232541521T>C | GRCh38 |
| NC_000002.11:g.233406231T>C , CM000664.1:g.233406231T>C | GRCh37 |
| NC_000002.10:g.233114475T>C | NCBI36 |
| NG_012954.1:g.6795T>C | |
| NG_012954.2:g.6830T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.498T>C MANE Select | ENSP00000498757.1:p.Leu166= | |
| ENST00000389492.3:c.350+810T>C | ENSP00000374143.3:n.350+810T>C | |
| ENST00000389494.7:c.498T>C | ENSP00000374145.3:p.Leu166= | |
| ENST00000485094.1:n.519T>C | ||
| NM_005199.4:c.498T>C | NP_005190.4:p.Leu166= | |
| NM_005199.5:c.498T>C MANE Select | NP_005190.4:p.Leu166= |