Linked Data
ClinVar Variation Id:
9118
dbSNP Id:
rs786205090
gnomAD v2:
11-68704560-G-T
gnomAD v3:
11-68937092-G-T
gnomAD v4:
11-68937092-G-T
PubMed:
PMID:11528396
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68937092G>T , CM000673.2:g.68937092G>T | GRCh38 |
| NC_000011.9:g.68704560G>T , CM000673.1:g.68704560G>T | GRCh37 |
| NC_000011.8:g.68461136G>T | NCBI36 |
| NG_007976.1:g.38242G>T , LRG_250:g.38242G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2611+1G>T MANE Select | ENSP00000255078.4:n.2611+1G>T | |
| ENST00000674675.1:c.756+1G>T | ||
| ENST00000674878.1:c.716+1G>T | ||
| ENST00000675118.1:c.2099+1G>T | ||
| ENST00000675615.1:c.2611+1G>T | ENSP00000502413.1:n.2611+1G>T | |
| ENST00000675648.1:n.1986+1G>T | ||
| ENST00000675916.1:c.855+1G>T | ||
| ENST00000676173.1:n.3356+1G>T | ||
| ENST00000255078.7:c.2611+1G>T | ENSP00000255078.3:n.2611+1G>T | |
| ENST00000543739.5:n.1604+1G>T | ||
| NM_002180.2:c.2611+1G>T , LRG_250t1:c.2611+1G>T | NP_002171.2:n.2611+1G>T | |
| XM_005273974.2:c.1600+1G>T | XP_005274031.1:n.1600+1G>T | |
| XM_005273975.2:c.1483+1G>T | XP_005274032.1:n.1483+1G>T | |
| XM_011544994.1:c.1378+1G>T | XP_011543296.1:n.1378+1G>T | |
| XR_949903.1:n.2713+1G>T | ||
| XM_005273975.3:c.1483+1G>T | XP_005274032.1:n.1483+1G>T | |
| XM_017017669.2:c.1600+1G>T | XP_016873158.1:n.1600+1G>T | |
| XM_017017670.2:c.1600+1G>T | XP_016873159.1:n.1600+1G>T | |
| XR_949903.3:n.2709+1G>T | ||
| NM_002180.3:c.2611+1G>T MANE Select | NP_002171.2:n.2611+1G>T |