Linked Data
ClinVar Variation Id:
1693161
ClinVar RCV Id:
RCV002260421
dbSNP Id:
rs780010188
COSMIC:
COSM4074724
MutSpliceDB:
CA404394847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13926820G>T , CM000681.2:g.13926820G>T | GRCh38 |
| NC_000019.9:g.14037633G>T , CM000681.1:g.14037633G>T | GRCh37 |
| NC_000019.8:g.13898633G>T | NCBI36 |
| NG_013089.1:g.25678G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679637.1:n.871-1G>T | ||
| ENST00000679937.1:n.773-1G>T | ||
| ENST00000680977.1:c.831-1G>T | ||
| ENST00000681428.1:n.998-1G>T | ||
| ENST00000681846.1:n.831-1G>T | ||
| ENST00000318003.11:c.2074-1G>T MANE Select | ENSP00000313601.6:n.2074-1G>T | |
| ENST00000586955.5:c.1477-1G>T | ||
| ENST00000587508.1:c.438-1G>T | ||
| ENST00000589138.5:n.1198-1G>T | ||
| ENST00000589224.1:n.279-1G>T | ||
| ENST00000589606.5:c.2074-1G>T | ENSP00000467526.1:n.2074-1G>T | |
| NM_017721.4:c.2074-1G>T | NP_060191.3:n.2074-1G>T | |
| XM_005259972.2:c.2071-1G>T | XP_005260029.1:n.2071-1G>T | |
| XM_005259973.2:c.2074-1G>T | XP_005260030.1:n.2074-1G>T | |
| XM_005259974.2:c.2062-1G>T | XP_005260031.1:n.2062-1G>T | |
| XM_005259975.2:c.2059-1G>T | XP_005260032.1:n.2059-1G>T | |
| XM_005259973.3:c.2074-1G>T | XP_005260030.1:n.2074-1G>T | |
| XM_005259974.3:c.2062-1G>T | XP_005260031.1:n.2062-1G>T | |
| XM_024451562.1:c.2074-1G>T | XP_024307330.1:n.2074-1G>T | |
| XM_024451563.1:c.2071-1G>T | XP_024307331.1:n.2071-1G>T | |
| XM_024451564.1:c.2062-1G>T | XP_024307332.1:n.2062-1G>T | |
| XM_024451565.1:c.2059-1G>T | XP_024307333.1:n.2059-1G>T | |
| NM_017721.5:c.2074-1G>T MANE Select | NP_060191.3:n.2074-1G>T |