Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120094435A>T , CM000665.2:g.120094435A>T | GRCh38 |
| NC_000003.11:g.119813282A>T , CM000665.1:g.119813282A>T | GRCh37 |
| NC_000003.10:g.121295972A>T | NCBI36 |
| NG_012922.1:g.4983T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264235.13:c.-1001T>A MANE Select | ENSP00000264235.9:n.-1001T>A | |
| ENST00000677034.1:c.-1001T>A | ENSP00000504055.1:n.-1001T>A | |
| ENST00000677338.1:c.-160+531T>A | ENSP00000503497.1:n.-160+531T>A | |
| ENST00000677903.1:c.-160+108T>A | ENSP00000503112.1:n.-160+108T>A | |
| XR_002959518.1:n.1389T>A | ||
| NM_001146156.2:c.-1001T>A MANE Select | NP_001139628.1:n.-1001T>A | |
| NM_001354596.2:c.-1001T>A | NP_001341525.1:n.-1001T>A | |
| NM_002093.4:c.-1001T>A | NP_002084.2:n.-1001T>A |