Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966291A>C , CM000670.2:g.37966291A>C | GRCh38 |
| NC_000008.10:g.37823809A>C , CM000670.1:g.37823809A>C | GRCh37 |
| NC_000008.9:g.37942966A>C | NCBI36 |
| NG_011936.1:g.5376T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.179T>G MANE Select | NP_000016.1:p.Val60Gly |
| ENST00000345060.5:c.179T>G MANE Select | ENSP00000343782.3:p.Val60Gly |
| NM_000025.2:c.179T>G | NP_000016.1:p.Val60Gly |
| ENST00000345060.4:c.179T>G | ENSP00000343782.3:p.Val60Gly |
| ENST00000520341.2:n.307T>G | |
| ENST00000614635.1:c.179T>G | ENSP00000480325.1:p.Val60Gly |