dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61138978A>T , CM000673.2:g.61138978A>T | GRCh38 |
| NC_000011.9:g.60906450A>T , CM000673.1:g.60906450A>T | GRCh37 |
| NC_000011.8:g.60663026A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301765.10:c.-6-143T>A MANE Select | ENSP00000301765.5:n.-6-143T>A | |
| ENST00000301765.9:c.-6-143T>A | ENSP00000301765.5:n.-6-143T>A | |
| ENST00000535818.1:n.226-143T>A | ||
| ENST00000536000.1:n.64-143T>A | ||
| ENST00000538036.1:c.-6-143T>A | ENSP00000446013.1:n.-6-143T>A | |
| NM_017966.4:c.-6-143T>A | NP_060436.4:n.-6-143T>A | |
| XM_005274077.2:c.-6-143T>A | XP_005274134.1:n.-6-143T>A | |
| XM_005274077.3:c.-6-143T>A | XP_005274134.1:n.-6-143T>A | |
| NM_017966.5:c.-6-143T>A MANE Select | NP_060436.4:n.-6-143T>A |