dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99544698G>C , CM000675.2:g.99544698G>C | GRCh38 |
| NC_000013.10:g.100196952G>C , CM000675.1:g.100196952G>C | GRCh37 |
| NC_000013.9:g.98994953G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376387.5:c.1150+703G>C MANE Select | ENSP00000365567.3:n.1150+703G>C | |
| ENST00000642475.1:c.1150+703G>C | ENSP00000493515.1:n.1150+703G>C | |
| ENST00000376387.4:c.1150+703G>C | ENSP00000365567.3:n.1150+703G>C | |
| NM_004800.2:c.1150+703G>C | NP_004791.1:n.1150+703G>C | |
| NM_004800.3:c.1150+703G>C MANE Select | NP_004791.1:n.1150+703G>C |