Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1295049A>T , CM000667.2:g.1295049A>T | GRCh38 |
| NC_000005.9:g.1295164A>T , CM000667.1:g.1295164A>T | GRCh37 |
| NC_000005.8:g.1348164A>T | NCBI36 |
| NG_009265.1:g.4999T>A , LRG_343:g.4999T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.-60T>A MANE Select | ENSP00000309572.5:n.-60T>A | |
| ENST00000522877.1:n.21T>A | ||
| NM_001193376.2:c.-60T>A | NP_001180305.1:n.-60T>A | |
| NM_198253.3:c.-60T>A MANE Select | NP_937983.2:n.-60T>A | |
| NR_149162.2:n.20T>A | ||
| NR_149163.2:n.20T>A | ||
| NM_001193376.3:c.-60T>A | NP_001180305.1:n.-60T>A | |
| NR_149162.3:n.20T>A | ||
| NR_149163.3:n.20T>A |