Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47639119C>T , CM000685.2:g.47639119C>T | GRCh38 |
| NC_000023.10:g.47498518C>T , CM000685.1:g.47498518C>T | GRCh37 |
| NC_000023.9:g.47383462C>T | NCBI36 |
| NG_009222.1:g.16486G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001114123.3:c.430G>A MANE Select | NP_001107595.1:p.Gly144Ser |
| ENST00000376983.8:c.430G>A MANE Select | ENSP00000366182.3:p.Gly144Ser |
| NM_001114123.2:c.430G>A | NP_001107595.1:p.Gly144Ser |
| NM_001257168.1:c.270+160G>A | NP_001244097.1:n.270+160G>A |
| NM_005229.4:c.430G>A | NP_005220.2:p.Gly144Ser |
| ENST00000247161.7:c.430G>A | ENSP00000247161.3:p.Gly144Ser |
| ENST00000343894.8:c.270+160G>A | ENSP00000345585.4:n.270+160G>A |
| ENST00000376983.7:c.430G>A | ENSP00000366182.3:p.Gly144Ser |