Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16129603T>C , CM000681.2:g.16129603T>C | GRCh38 |
| NC_000019.9:g.16240413T>C , CM000681.1:g.16240413T>C | GRCh37 |
| NC_000019.8:g.16101413T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300935.8:c.530T>C MANE Select | ENSP00000300935.2:p.Leu177Ser | |
| ENST00000300935.7:c.530T>C | ENSP00000300935.2:p.Leu177Ser | |
| ENST00000586682.1:c.510T>C | ENSP00000467501.1:p.Ile170= | |
| ENST00000592971.1:n.191T>C | ||
| NM_005370.4:c.530T>C | NP_005361.2:p.Leu177Ser | |
| XM_011528020.1:c.530T>C | XP_011526322.1:p.Leu177Ser | |
| XM_011528020.3:c.530T>C | XP_011526322.1:p.Leu177Ser | |
| NM_005370.5:c.530T>C MANE Select | NP_005361.2:p.Leu177Ser |