Linked Data
dbSNP Id:
rs753421132
ExAC:
11:68703701 G / T
gnomAD v2:
11-68703701-G-T
gnomAD v4:
11-68936233-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936233G>T , CM000673.2:g.68936233G>T | GRCh38 |
| NC_000011.9:g.68703701G>T , CM000673.1:g.68703701G>T | GRCh37 |
| NC_000011.8:g.68460277G>T | NCBI36 |
| NG_007976.1:g.37383G>T , LRG_250:g.37383G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1757-4G>T MANE Select | ENSP00000255078.4:n.1757-4G>T | |
| ENST00000674955.1:c.*474-4G>T | ENSP00000502463.1:n.*474-4G>T | |
| ENST00000675118.1:c.1245-4G>T | ||
| ENST00000675389.1:n.32-4G>T | ||
| ENST00000675615.1:c.1757-4G>T | ENSP00000502413.1:n.1757-4G>T | |
| ENST00000675648.1:n.1132-4G>T | ||
| ENST00000676173.1:n.2502-4G>T | ||
| ENST00000676182.1:c.188-4G>T | ||
| ENST00000676228.1:c.*1080-4G>T | ENSP00000502375.1:n.*1080-4G>T | |
| ENST00000255078.7:c.1757-4G>T | ENSP00000255078.3:n.1757-4G>T | |
| ENST00000539064.5:n.1516-4G>T | ||
| ENST00000541229.5:n.452-4G>T | ||
| ENST00000543739.5:n.750-4G>T | ||
| ENST00000545475.1:n.353-4G>T | ||
| NM_002180.2:c.1757-4G>T , LRG_250t1:c.1757-4G>T | NP_002171.2:n.1757-4G>T | |
| XM_005273974.2:c.746-4G>T | XP_005274031.1:n.746-4G>T | |
| XM_005273975.2:c.629-4G>T | XP_005274032.1:n.629-4G>T | |
| XM_011544994.1:c.524-4G>T | XP_011543296.1:n.524-4G>T | |
| XR_949903.1:n.1859-4G>T | ||
| XM_005273975.3:c.629-4G>T | XP_005274032.1:n.629-4G>T | |
| XM_017017669.2:c.746-4G>T | XP_016873158.1:n.746-4G>T | |
| XM_017017670.2:c.746-4G>T | XP_016873159.1:n.746-4G>T | |
| XR_949903.3:n.1855-4G>T | ||
| NM_002180.3:c.1757-4G>T MANE Select | NP_002171.2:n.1757-4G>T |