Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966425C>T , CM000685.2:g.154966425C>T | GRCh38 |
| NC_000023.10:g.154194700C>T , CM000685.1:g.154194700C>T | GRCh37 |
| NC_000023.9:g.153847894C>T | NCBI36 |
| NG_011403.1:g.61299G>A | |
| NG_011403.2:g.61299G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.1271+1G>A MANE Select | NP_000123.1:n.1271+1G>A |
| ENST00000360256.9:c.1271+1G>A MANE Select | ENSP00000353393.4:n.1271+1G>A |
| NM_000132.3:c.1271+1G>A | NP_000123.1:n.1271+1G>A |
| ENST00000360256.8:c.1271+1G>A | ENSP00000353393.4:n.1271+1G>A |
| ENST00000483822.2:n.91+1G>A | |
| ENST00000647125.1:c.*1147+1G>A | ENSP00000496062.1:n.*1147+1G>A |
| XM_011531126.1:c.1166+1G>A | XP_011529428.1:n.1166+1G>A |