Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154965968A>C , CM000685.2:g.154965968A>C | GRCh38 |
| NC_000023.10:g.154194243A>C , CM000685.1:g.154194243A>C | GRCh37 |
| NC_000023.9:g.153847437A>C | NCBI36 |
| NG_011403.1:g.61756T>G | |
| NG_011403.2:g.61756T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.1443+2T>G MANE Select | NP_000123.1:n.1443+2T>G |
| ENST00000360256.9:c.1443+2T>G MANE Select | ENSP00000353393.4:n.1443+2T>G |
| NM_000132.3:c.1443+2T>G | NP_000123.1:n.1443+2T>G |
| ENST00000360256.8:c.1443+2T>G | ENSP00000353393.4:n.1443+2T>G |
| ENST00000483822.2:n.265T>G | |
| ENST00000647125.1:c.*1319+2T>G | ENSP00000496062.1:n.*1319+2T>G |
| XM_011531126.1:c.1338+2T>G | XP_011529428.1:n.1338+2T>G |