Linked Data
ClinVar Variation Id:
38424
ClinVar RCV Id:
RCV000031980
dbSNP Id:
rs281865012
gnomAD v4:
12-101760029-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101760029C>T , CM000674.2:g.101760029C>T | GRCh38 |
| NC_000012.11:g.102153807C>T , CM000674.1:g.102153807C>T | GRCh37 |
| NC_000012.10:g.100677938C>T | NCBI36 |
| NG_021243.1:g.75839G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3249+1G>A MANE Select | ENSP00000299314.7:n.3249+1G>A | |
| ENST00000299314.11:c.3249+1G>A | ENSP00000299314.7:n.3249+1G>A | |
| ENST00000549194.1:n.115+1G>A | ||
| ENST00000550718.1:c.61+1G>A | ||
| NM_024312.4:c.3249+1G>A | NP_077288.2:n.3249+1G>A | |
| XM_006719593.2:c.3249+1G>A | XP_006719656.1:n.3249+1G>A | |
| XM_011538731.1:c.3168+1G>A | XP_011537033.1:n.3168+1G>A | |
| XM_006719593.3:c.3249+1G>A | XP_006719656.1:n.3249+1G>A | |
| XM_011538731.2:c.3168+1G>A | XP_011537033.1:n.3168+1G>A | |
| XM_017019961.1:c.3033+1G>A | XP_016875450.1:n.3033+1G>A | |
| XM_017019962.2:c.2022+1G>A | XP_016875451.1:n.2022+1G>A | |
| NM_024312.5:c.3249+1G>A MANE Select | NP_077288.2:n.3249+1G>A |