dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.9109486T>C , CM000680.2:g.9109486T>C | GRCh38 |
| NC_000018.9:g.9109484T>C , CM000680.1:g.9109484T>C | GRCh37 |
| NC_000018.8:g.9099484T>C | NCBI36 |
| NG_013355.1:g.11857T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318388.11:c.54+6689T>C MANE Select | ENSP00000327268.6:n.54+6689T>C | |
| ENST00000318388.10:c.54+6689T>C | ENSP00000327268.6:n.54+6689T>C | |
| ENST00000400033.1:c.63+4507T>C | ENSP00000382908.1:n.63+4507T>C | |
| ENST00000577703.1:c.*570+6053T>C | ENSP00000461911.1:n.*570+6053T>C | |
| ENST00000583375.5:n.145+6524T>C | ||
| NM_021074.4:c.54+6689T>C | NP_066552.2:n.54+6689T>C | |
| XR_243808.1:n.156+6689T>C | ||
| XR_002958175.1:n.156+6689T>C | ||
| XR_243808.3:n.71+6689T>C | ||
| NM_021074.5:c.54+6689T>C MANE Select | NP_066552.2:n.54+6689T>C |