dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.1300822C>G , CM000672.2:g.1300822C>G | GRCh38 |
| NC_000010.10:g.1343017C>G , CM000672.1:g.1343017C>G | GRCh37 |
| NC_000010.9:g.1333017C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381312.6:c.1078-29753G>C MANE Select | ENSP00000370713.1:n.1078-29753G>C | |
| ENST00000381312.5:c.1078-29753G>C | ENSP00000370713.1:n.1078-29753G>C | |
| NM_018702.3:c.1078-29753G>C | NP_061172.1:n.1078-29753G>C | |
| XR_930468.1:n.1426-29753G>C | ||
| NM_018702.4:c.1078-29753G>C MANE Select | NP_061172.1:n.1078-29753G>C |