gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67811665T>A , CM000672.2:g.67811665T>A | GRCh38 |
| NC_000010.10:g.69571423T>A , CM000672.1:g.69571423T>A | GRCh37 |
| NC_000010.9:g.69241429T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225171.7:c.158-2A>T MANE Select | ENSP00000225171.2:n.158-2A>T | |
| ENST00000225171.6:c.158-2A>T | ENSP00000225171.2:n.158-2A>T | |
| ENST00000339758.7:c.158-2A>T | ENSP00000343575.6:n.158-2A>T | |
| ENST00000480180.1:c.*177-2A>T | ENSP00000474804.1:n.*177-2A>T | |
| ENST00000480963.5:c.*78-2A>T | ENSP00000473979.1:n.*78-2A>T | |
| ENST00000483798.6:c.248-2A>T | ENSP00000474215.1:n.248-2A>T | |
| NM_021800.2:c.158-2A>T | NP_068572.1:n.158-2A>T | |
| NM_201262.1:c.158-2A>T | NP_957714.1:n.158-2A>T | |
| XM_011539967.1:c.188-2A>T | XP_011538269.1:n.188-2A>T | |
| XM_017016431.1:c.-89-2A>T | XP_016871920.1:n.-89-2A>T | |
| XM_017016432.2:c.-89-2A>T | XP_016871921.1:n.-89-2A>T | |
| NM_021800.3:c.158-2A>T MANE Select | NP_068572.1:n.158-2A>T | |
| NM_201262.2:c.158-2A>T | NP_957714.1:n.158-2A>T |