Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151663423A>T , CM000667.2:g.151663423A>T | GRCh38 |
| NC_000005.9:g.151042984A>T , CM000667.1:g.151042984A>T | GRCh37 |
| NC_000005.8:g.151023177A>T | NCBI36 |
| NG_042174.1:g.28632T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003118.4:c.*148T>A MANE Select | NP_003109.1:n.*148T>A |
| ENST00000231061.9:c.*148T>A MANE Select | ENSP00000231061.4:n.*148T>A |
| NM_001309443.1:c.*148T>A | NP_001296372.1:n.*148T>A |
| NM_001309443.2:c.*148T>A | NP_001296372.1:n.*148T>A |
| NM_001309444.1:c.*32T>A | NP_001296373.1:n.*32T>A |
| NM_001309444.2:c.*32T>A | NP_001296373.1:n.*32T>A |
| NM_003118.3:c.*148T>A | NP_003109.1:n.*148T>A |
| ENST00000231061.8:c.*148T>A | ENSP00000231061.4:n.*148T>A |
| ENST00000520687.1:n.663T>A |