dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117550673G>T , CM000668.2:g.117550673G>T | GRCh38 |
| NC_000006.11:g.117871836G>T , CM000668.1:g.117871836G>T | GRCh37 |
| NC_000006.10:g.117978529G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296955.12:c.1615+5076G>T | ENSP00000296955.8:n.1615+5076G>T | |
| ENST00000467125.1:c.547+16181C>A | ENSP00000487717.1:n.547+16181C>A | |
| ENST00000533453.5:n.3345+5076G>T | ||
| NM_173674.1:c.1615+5076G>T | NP_775945.1:n.1615+5076G>T | |
| NM_173674.2:c.1615+5076G>T | NP_775945.1:n.1615+5076G>T | |
| NM_173674.3:c.1615+5076G>T | NP_775945.1:n.1615+5076G>T |