Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96429411T>C , CM000667.2:g.96429411T>C | GRCh38 |
| NC_000005.9:g.95765115T>C , CM000667.1:g.95765115T>C | GRCh37 |
| NC_000005.8:g.95790871T>C | NCBI36 |
| NG_021161.1:g.8871A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.181-94A>G MANE Select | ENSP00000308024.2:n.181-94A>G | |
| ENST00000311106.7:c.181-94A>G | ENSP00000308024.2:n.181-94A>G | |
| ENST00000508626.5:c.40-94A>G | ENSP00000421600.1:n.40-94A>G | |
| ENST00000509190.1:c.181-94A>G | ENSP00000427294.1:n.181-94A>G | |
| NM_000439.4:c.181-94A>G | NP_000430.3:n.181-94A>G | |
| NM_001177875.1:c.40-94A>G | NP_001171346.1:n.40-94A>G | |
| NR_130776.1:n.354+49759T>C | ||
| NM_000439.5:c.181-94A>G MANE Select | NP_000430.3:n.181-94A>G | |
| NM_001177875.2:c.40-94A>G | NP_001171346.1:n.40-94A>G |