dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99280582G>T , CM000666.2:g.99280582G>T | GRCh38 |
| NC_000004.11:g.100201739G>T , CM000666.1:g.100201739G>T | GRCh37 |
| NC_000004.10:g.100420762G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209668.3:c.829-303C>A MANE Select | ENSP00000209668.2:n.829-303C>A | |
| ENST00000209668.2:c.829-303C>A | ENSP00000209668.2:n.829-303C>A | |
| NM_000667.3:c.829-303C>A | NP_000658.1:n.829-303C>A | |
| NR_037884.1:n.3790-6213G>T | ||
| NM_000667.4:c.829-303C>A MANE Select | NP_000658.1:n.829-303C>A |