ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10645351C>G , CM000682.2:g.10645351C>G | GRCh38 |
| NC_000020.10:g.10625999C>G , CM000682.1:g.10625999C>G | GRCh37 |
| NC_000020.9:g.10573999C>G | NCBI36 |
| NG_007496.1:g.33696G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2113+5G>C MANE Select | ENSP00000254958.4:n.2113+5G>C | |
| ENST00000617965.2:n.2702+5G>C | ||
| ENST00000254958.9:c.2113+5G>C | ENSP00000254958.4:n.2113+5G>C | |
| ENST00000423891.6:n.1979+5G>C | ||
| ENST00000488480.2:n.510+5G>C | ||
| NM_000214.2:c.2113+5G>C | NP_000205.1:n.2113+5G>C | |
| NM_000214.3:c.2113+5G>C MANE Select | NP_000205.1:n.2113+5G>C |