dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25231099C>T , CM000664.2:g.25231099C>T | GRCh38 |
| NC_000002.11:g.25453968C>T , CM000664.1:g.25453968C>T | GRCh37 |
| NC_000002.10:g.25307472C>T | NCBI36 |
| NG_029465.2:g.116492G>A , LRG_459:g.116492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321117.10:c.*3180G>A MANE Select | ENSP00000324375.5:n.*3180G>A | |
| ENST00000264709.7:c.*3180G>A | ENSP00000264709.3:n.*3180G>A | |
| NR_135490.2:n.6349G>A | ||
| NM_022552.5:c.*3180G>A MANE Select | NP_072046.2:n.*3180G>A |