Linked Data
ClinVar Variation Id:
39059
dbSNP Id:
rs281865001
gnomAD v2:
12-102157978-A-C
gnomAD v3:
12-101764200-A-C
gnomAD v4:
12-101764200-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101764200A>C , CM000674.2:g.101764200A>C | GRCh38 |
| NC_000012.11:g.102157978A>C , CM000674.1:g.102157978A>C | GRCh37 |
| NC_000012.10:g.100682109A>C | NCBI36 |
| NG_021243.1:g.71668T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2715+2T>G MANE Select | ENSP00000299314.7:n.2715+2T>G | |
| ENST00000299314.11:c.2715+2T>G | ENSP00000299314.7:n.2715+2T>G | |
| NM_024312.4:c.2715+2T>G | NP_077288.2:n.2715+2T>G | |
| XM_006719593.2:c.2715+2T>G | XP_006719656.1:n.2715+2T>G | |
| XM_011538731.1:c.2634+2T>G | XP_011537033.1:n.2634+2T>G | |
| XM_006719593.3:c.2715+2T>G | XP_006719656.1:n.2715+2T>G | |
| XM_011538731.2:c.2634+2T>G | XP_011537033.1:n.2634+2T>G | |
| XM_017019961.1:c.2499+2T>G | XP_016875450.1:n.2499+2T>G | |
| XM_017019962.2:c.1488+2T>G | XP_016875451.1:n.1488+2T>G | |
| NM_024312.5:c.2715+2T>G MANE Select | NP_077288.2:n.2715+2T>G |