dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.48536386G>T , CM000684.2:g.48536386G>T | GRCh38 |
| NC_000022.10:g.48932198G>T , CM000684.1:g.48932198G>T | GRCh37 |
| NC_000022.9:g.47310862G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402357.6:c.112+46682G>T MANE Select | ENSP00000383933.2:n.112+46682G>T | |
| ENST00000336769.9:c.112+46682G>T | ENSP00000336812.5:n.112+46682G>T | |
| ENST00000402357.5:c.112+46682G>T | ENSP00000383933.1:n.112+46682G>T | |
| NM_001082967.2:c.112+46682G>T | NP_001076436.1:n.112+46682G>T | |
| NM_001082967.3:c.112+46682G>T MANE Select | NP_001076436.1:n.112+46682G>T |