Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49482474C>T , CM000682.2:g.49482474C>T | GRCh38 |
| NC_000020.10:g.48099011C>T , CM000682.1:g.48099011C>T | GRCh37 |
| NC_000020.9:g.47532418C>T | NCBI36 |
| NG_041781.1:g.5171G>A | |
| NG_041781.2:g.5171G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004975.4:c.7G>A MANE Select | NP_004966.1:p.Ala3Thr |
| ENST00000371741.6:c.7G>A MANE Select | ENSP00000360806.3:p.Ala3Thr |
| NM_004975.2:c.7G>A | NP_004966.1:p.Ala3Thr |
| NM_004975.3:c.7G>A | NP_004966.1:p.Ala3Thr |
| ENST00000371741.5:c.7G>A | ENSP00000360806.3:p.Ala3Thr |
| ENST00000635465.1:c.7G>A | ENSP00000489193.1:p.Ala3Thr |
| XM_006723784.2:c.7G>A | XP_006723847.1:p.Ala3Thr |
| XM_006723784.3:c.7G>A | XP_006723847.1:p.Ala3Thr |
| XM_011528799.1:c.7G>A | XP_011527101.1:p.Ala3Thr |
| XM_011528799.2:c.7G>A | XP_011527101.1:p.Ala3Thr |