Linked Data
ClinVar Variation Id:
2687960
ClinVar RCV Id:
RCV003488869
dbSNP Id:
rs2297520
ExAC:
17:26108040 T / C
gnomAD v2:
17-26108040-T-C
gnomAD v3:
17-27781014-T-C
gnomAD v4:
17-27781014-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27781014T>C , CM000679.2:g.27781014T>C | GRCh38 |
| NC_000017.10:g.26108040T>C , CM000679.1:g.26108040T>C | GRCh37 |
| NC_000017.9:g.23132167T>C | NCBI36 |
| NG_011470.1:g.24516A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697337.1:c.*310+22A>G | ENSP00000513259.1:n.*310+22A>G | |
| ENST00000697338.1:c.712+22A>G | ENSP00000513260.1:n.712+22A>G | |
| ENST00000697339.1:c.316-6563A>G | ENSP00000513261.1:n.316-6563A>G | |
| ENST00000697340.1:c.861+22A>G | ENSP00000513262.1:n.861+22A>G | |
| ENST00000697341.1:n.834+22A>G | ||
| ENST00000313735.11:c.864+22A>G MANE Select | ENSP00000327251.6:n.864+22A>G | |
| ENST00000646938.1:c.861+22A>G | ENSP00000494870.1:n.861+22A>G | |
| ENST00000313735.10:c.864+22A>G | ENSP00000327251.6:n.864+22A>G | |
| ENST00000621962.1:c.789+97A>G | ENSP00000482291.1:n.789+97A>G | |
| NM_000625.4:c.864+22A>G MANE Select | NP_000616.3:n.864+22A>G | |
| XM_011524859.1:c.864+22A>G | XP_011523161.1:n.864+22A>G | |
| XM_011524860.1:c.861+22A>G | XP_011523162.1:n.861+22A>G | |
| XM_011524861.1:c.864+22A>G | XP_011523163.1:n.864+22A>G | |
| XM_011524862.1:c.198+22A>G | XP_011523164.1:n.198+22A>G |