Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126822794G>C , CM000667.2:g.126822794G>C | GRCh38 |
| NC_000005.9:g.126158486G>C , CM000667.1:g.126158486G>C | GRCh37 |
| NC_000005.8:g.126186385G>C | NCBI36 |
| NG_008360.2:g.50654G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261366.10:c.1400G>C MANE Select | ENSP00000261366.5:p.Gly467Ala | |
| ENST00000261366.9:c.1400G>C | ENSP00000261366.5:p.Gly467Ala | |
| ENST00000460265.5:c.*488G>C | ENSP00000486528.1:n.*488G>C | |
| ENST00000504788.5:n.1133G>C | ||
| NM_001198557.1:c.770G>C | NP_001185486.1:p.Gly257Ala | |
| NM_005573.3:c.1400G>C | NP_005564.1:p.Gly467Ala | |
| XR_948250.1:n.1842G>C | ||
| NR_134488.1:n.2364G>C | ||
| NM_005573.4:c.1400G>C MANE Select | NP_005564.1:p.Gly467Ala | |
| NM_001198557.2:c.770G>C | NP_001185486.1:p.Gly257Ala |