Linked Data
dbSNP Id:
rs756238254
gnomAD v2:
11-68701719-G-T
gnomAD v3:
11-68934251-G-T
gnomAD v4:
11-68934251-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68934251G>T , CM000673.2:g.68934251G>T | GRCh38 |
| NC_000011.9:g.68701719G>T , CM000673.1:g.68701719G>T | GRCh37 |
| NC_000011.8:g.68458295G>T | NCBI36 |
| NG_007976.1:g.35401G>T , LRG_250:g.35401G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1538-213G>T MANE Select | ENSP00000255078.4:n.1538-213G>T | |
| ENST00000674955.1:c.*255-213G>T | ENSP00000502463.1:n.*255-213G>T | |
| ENST00000675118.1:c.1026-213G>T | ||
| ENST00000675205.1:n.184-213G>T | ||
| ENST00000675615.1:c.1538-213G>T | ENSP00000502413.1:n.1538-213G>T | |
| ENST00000675648.1:n.913-213G>T | ||
| ENST00000675997.1:n.113-213G>T | ||
| ENST00000676173.1:n.2283-213G>T | ||
| ENST00000676228.1:c.*861-213G>T | ENSP00000502375.1:n.*861-213G>T | |
| ENST00000255078.7:c.1538-213G>T | ENSP00000255078.3:n.1538-213G>T | |
| ENST00000539064.5:n.1297-213G>T | ||
| ENST00000541229.5:n.233-213G>T | ||
| ENST00000543739.5:n.655-213G>T | ||
| NM_002180.2:c.1538-213G>T , LRG_250t1:c.1538-213G>T | NP_002171.2:n.1538-213G>T | |
| XM_005273974.2:c.527-213G>T | XP_005274031.1:n.527-213G>T | |
| XM_005273975.2:c.410-213G>T | XP_005274032.1:n.410-213G>T | |
| XM_011544994.1:c.305-213G>T | XP_011543296.1:n.305-213G>T | |
| XR_949903.1:n.1640-213G>T | ||
| XM_005273975.3:c.410-213G>T | XP_005274032.1:n.410-213G>T | |
| XM_017017669.2:c.527-213G>T | XP_016873158.1:n.527-213G>T | |
| XM_017017670.2:c.527-213G>T | XP_016873159.1:n.527-213G>T | |
| XM_017017671.2:c.1538-213G>T | XP_016873160.1:n.1538-213G>T | |
| XR_949903.3:n.1636-213G>T | ||
| NM_002180.3:c.1538-213G>T MANE Select | NP_002171.2:n.1538-213G>T |