Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1295048A>G , CM000667.2:g.1295048A>G | GRCh38 |
| NC_000005.9:g.1295163A>G , CM000667.1:g.1295163A>G | GRCh37 |
| NC_000005.8:g.1348163A>G | NCBI36 |
| NG_009265.1:g.5000T>C , LRG_343:g.5000T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.-59T>C MANE Select | ENSP00000309572.5:n.-59T>C | |
| ENST00000522877.1:n.22T>C | ||
| NM_001193376.2:c.-59T>C | NP_001180305.1:n.-59T>C | |
| NM_198253.3:c.-59T>C MANE Select | NP_937983.2:n.-59T>C | |
| NR_149162.2:n.21T>C | ||
| NR_149163.2:n.21T>C | ||
| NM_001193376.3:c.-59T>C | NP_001180305.1:n.-59T>C | |
| NR_149162.3:n.21T>C | ||
| NR_149163.3:n.21T>C |