Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147773279T>A , CM000663.2:g.147773279T>A | GRCh38 |
| NC_000001.10:g.147245383T>A , CM000663.1:g.147245383T>A | GRCh37 |
| NC_000001.9:g.145712007T>A | NCBI36 |
| NG_009369.2:g.5096A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005266.6:c.-61A>T | NP_005257.2:n.-61A>T |
| NM_005266.7:c.-61A>T | NP_005257.2:n.-61A>T |
| ENST00000430508.1:c.-61A>T | ENSP00000407645.1:n.-61A>T |
| ENST00000621517.1:c.-61A>T | ENSP00000484552.1:n.-61A>T |
| XM_005272951.3:c.-34+7388A>T | XP_005273008.1:n.-34+7388A>T |
| XM_005272951.4:c.-34+7388A>T | XP_005273008.1:n.-34+7388A>T |
| XM_011509415.1:c.-2206A>T | XP_011507717.1:n.-2206A>T |
| XM_017001044.1:c.-2047A>T | XP_016856533.1:n.-2047A>T |
| XR_922078.1:n.434-4282T>A | |
| XR_922079.1:n.434-4282T>A | |
| XR_922079.3:n.744-4282T>A |