Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.39690525G>C , CM000669.2:g.39690525G>C | GRCh38 |
| NC_000007.13:g.39730124G>C , CM000669.1:g.39730124G>C | GRCh37 |
| NC_000007.12:g.39696649G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005257.7:c.258G>C MANE Select | ENSP00000005257.2:p.Gly86= | |
| ENST00000005257.6:c.258G>C | ENSP00000005257.2:p.Gly86= | |
| ENST00000434466.1:c.239G>C | ||
| ENST00000436179.1:c.258G>C | ENSP00000388975.1:p.Gly86= | |
| ENST00000468201.1:n.262-6160G>C | ||
| NM_005402.3:c.258G>C | NP_005393.2:p.Gly86= | |
| XM_006715762.2:c.258G>C | XP_006715825.1:p.Gly86= | |
| XM_011515466.1:c.258G>C | XP_011513768.1:p.Gly86= | |
| XM_006715762.3:c.258G>C | XP_006715825.1:p.Gly86= | |
| NM_005402.4:c.258G>C MANE Select | NP_005393.2:p.Gly86= |