Linked Data
ClinVar Variation Id:
1684587
ClinVar RCV Id:
RCV002246203
dbSNP Id:
rs1971662595
COSMIC:
COSM3692406
MutSpliceDB:
CA404395415
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13926873G>T , CM000681.2:g.13926873G>T | GRCh38 |
| NC_000019.9:g.14037686G>T , CM000681.1:g.14037686G>T | GRCh37 |
| NC_000019.8:g.13898686G>T | NCBI36 |
| NG_013089.1:g.25731G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679637.1:n.922+1G>T | ||
| ENST00000679937.1:n.824+1G>T | ||
| ENST00000680977.1:c.882+1G>T | ||
| ENST00000681428.1:n.1049+1G>T | ||
| ENST00000681846.1:n.882+1G>T | ||
| ENST00000318003.11:c.2125+1G>T MANE Select | ENSP00000313601.6:n.2125+1G>T | |
| ENST00000586955.5:c.1528+1G>T | ||
| ENST00000587508.1:c.489+1G>T | ||
| ENST00000589138.5:n.1249+1G>T | ||
| ENST00000589224.1:n.330+1G>T | ||
| ENST00000589606.5:c.2125+1G>T | ENSP00000467526.1:n.2125+1G>T | |
| NM_017721.4:c.2125+1G>T | NP_060191.3:n.2125+1G>T | |
| XM_005259972.2:c.2122+1G>T | XP_005260029.1:n.2122+1G>T | |
| XM_005259973.2:c.2125+1G>T | XP_005260030.1:n.2125+1G>T | |
| XM_005259974.2:c.2113+1G>T | XP_005260031.1:n.2113+1G>T | |
| XM_005259975.2:c.2110+1G>T | XP_005260032.1:n.2110+1G>T | |
| XM_005259973.3:c.2125+1G>T | XP_005260030.1:n.2125+1G>T | |
| XM_005259974.3:c.2113+1G>T | XP_005260031.1:n.2113+1G>T | |
| XM_024451562.1:c.2125+1G>T | XP_024307330.1:n.2125+1G>T | |
| XM_024451563.1:c.2122+1G>T | XP_024307331.1:n.2122+1G>T | |
| XM_024451564.1:c.2113+1G>T | XP_024307332.1:n.2113+1G>T | |
| XM_024451565.1:c.2110+1G>T | XP_024307333.1:n.2110+1G>T | |
| NM_017721.5:c.2125+1G>T MANE Select | NP_060191.3:n.2125+1G>T |