gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37241613G>T , CM000684.2:g.37241613G>T | GRCh38 |
| NC_000022.10:g.37637653G>T , CM000684.1:g.37637653G>T | GRCh37 |
| NC_000022.9:g.35967599G>T | NCBI36 |
| NG_007288.1:g.7653C>A , LRG_97:g.7653C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699915.1:n.139C>A | ||
| ENST00000249071.11:c.81C>A MANE Select | ENSP00000249071.6:p.Ala27= | |
| ENST00000249071.10:c.81C>A | ENSP00000249071.6:p.Ala27= | |
| ENST00000401529.3:c.81C>A | ENSP00000385666.3:p.Ala27= | |
| ENST00000405484.5:c.60C>A | ENSP00000385590.1:p.Ala20= | |
| ENST00000406508.5:c.-52C>A | ENSP00000385270.1:n.-52C>A | |
| ENST00000441619.5:c.81C>A | ENSP00000403778.1:p.Ala27= | |
| ENST00000469532.1:n.211C>A | ||
| NM_002872.4:c.81C>A | NP_002863.1:p.Ala27= | |
| XM_006724286.2:c.81C>A | XP_006724349.1:p.Ala27= | |
| XM_006724286.3:c.81C>A | XP_006724349.1:p.Ala27= | |
| NM_002872.5:c.81C>A MANE Select | NP_002863.1:p.Ala27= |