Linked Data
dbSNP Id:
rs4891159
gnomAD v2:
18-74101941-G-A
gnomAD v3:
18-76389985-G-A
gnomAD v4:
18-76389985-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.76389985G>A , CM000680.2:g.76389985G>A | GRCh38 |
| NC_000018.9:g.74101941G>A , CM000680.1:g.74101941G>A | GRCh37 |
| NC_000018.8:g.72230929G>A | NCBI36 |
| NG_032949.1:g.110206C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000443185.7:c.1811-9682C>T MANE Select | ENSP00000394757.2:n.1811-9682C>T | |
| ENST00000443185.6:c.1811-9682C>T | ENSP00000394757.2:n.1811-9682C>T | |
| NM_014643.3:c.1811-9682C>T | NP_055458.1:n.1811-9682C>T | |
| XM_011526269.1:c.1811-9682C>T | XP_011524571.1:n.1811-9682C>T | |
| XM_011526270.1:c.1811-9682C>T | XP_011524572.1:n.1811-9682C>T | |
| XM_011526271.1:c.1811-9682C>T | XP_011524573.1:n.1811-9682C>T | |
| XM_011526272.1:c.1811-9682C>T | XP_011524574.1:n.1811-9682C>T | |
| XM_011526273.1:c.1811-9682C>T | XP_011524575.1:n.1811-9682C>T | |
| XM_011526274.1:c.1811-9682C>T | XP_011524576.1:n.1811-9682C>T | |
| XM_011526275.1:c.1811-9682C>T | XP_011524577.1:n.1811-9682C>T | |
| XM_011526276.1:c.1811-9682C>T | XP_011524578.1:n.1811-9682C>T | |
| XM_011526277.1:c.1811-9682C>T | XP_011524579.1:n.1811-9682C>T | |
| XR_935268.1:n.2067-9682C>T | ||
| XM_011526269.2:c.1811-9682C>T | XP_011524571.1:n.1811-9682C>T | |
| XM_011526270.3:c.1811-9682C>T | XP_011524572.1:n.1811-9682C>T | |
| XM_011526271.3:c.1811-9682C>T | XP_011524573.1:n.1811-9682C>T | |
| XM_011526273.3:c.1811-9682C>T | XP_011524575.1:n.1811-9682C>T | |
| XM_011526274.3:c.1811-9682C>T | XP_011524576.1:n.1811-9682C>T | |
| XM_011526275.2:c.1811-9682C>T | XP_011524577.1:n.1811-9682C>T | |
| XM_011526276.2:c.1811-9682C>T | XP_011524578.1:n.1811-9682C>T | |
| XM_011526277.2:c.1811-9682C>T | XP_011524579.1:n.1811-9682C>T | |
| XM_017026097.2:c.1811-9682C>T | XP_016881586.1:n.1811-9682C>T | |
| XR_935268.2:n.2067-9682C>T | ||
| NM_014643.4:c.1811-9682C>T MANE Select | NP_055458.1:n.1811-9682C>T |