Linked Data
dbSNP Id:
rs10492002
gnomAD v2:
12-81544536-C-T
gnomAD v3:
12-81150757-C-T
gnomAD v4:
12-81150757-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.81150757C>T , CM000674.2:g.81150757C>T | GRCh38 |
| NC_000012.11:g.81544536C>T , CM000674.1:g.81544536C>T | GRCh37 |
| NC_000012.10:g.80068667C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000548058.6:c.922-1087C>T MANE Select | ENSP00000449535.1:n.922-1087C>T | |
| ENST00000261206.7:c.919-1087C>T | ENSP00000261206.3:n.919-1087C>T | |
| ENST00000548058.5:c.922-1087C>T | ENSP00000449535.1:n.922-1087C>T | |
| NM_024560.2:c.922-1087C>T | NP_078836.1:n.922-1087C>T | |
| XM_005269150.2:c.919-1087C>T | XP_005269207.1:n.919-1087C>T | |
| XM_005269151.3:c.922-1087C>T | XP_005269208.1:n.922-1087C>T | |
| XM_011538740.1:c.-33-1087C>T | XP_011537042.1:n.-33-1087C>T | |
| XR_944720.1:n.1025-1087C>T | ||
| NM_001330242.1:c.919-1087C>T | NP_001317171.1:n.919-1087C>T | |
| NM_001330243.1:c.-33-1087C>T | NP_001317172.1:n.-33-1087C>T | |
| NM_024560.3:c.922-1087C>T | NP_078836.1:n.922-1087C>T | |
| XM_005269151.5:c.922-1087C>T | XP_005269208.1:n.922-1087C>T | |
| XR_944720.3:n.1006-1087C>T | ||
| NM_024560.4:c.922-1087C>T MANE Select | NP_078836.1:n.922-1087C>T | |
| NM_001330242.2:c.919-1087C>T | NP_001317171.1:n.919-1087C>T | |
| NM_001330243.2:c.-33-1087C>T | NP_001317172.1:n.-33-1087C>T |