Linked Data
dbSNP Id:
rs1568527315
gnomAD v2:
19-46182244-T-G
gnomAD v3:
19-45678986-T-G
gnomAD v4:
19-45678986-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45678986T>G , CM000681.2:g.45678986T>G | GRCh38 |
| NC_000019.9:g.46182244T>G , CM000681.1:g.46182244T>G | GRCh37 |
| NC_000019.8:g.50874084T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000590918.6:c.1152+760T>G MANE Select | ENSP00000467494.1:n.1152+760T>G | |
| ENST00000652180.1:c.969+760T>G | ENSP00000498426.1:n.969+760T>G | |
| ENST00000263281.7:c.1152+760T>G | ENSP00000263281.3:n.1152+760T>G | |
| ENST00000304207.12:c.1044+760T>G | ENSP00000305321.8:n.1044+760T>G | |
| ENST00000585889.1:c.*223+760T>G | ENSP00000467342.1:n.*223+760T>G | |
| ENST00000590918.5:c.1152+760T>G | ENSP00000467494.1:n.1152+760T>G | |
| NM_000164.2:c.1152+760T>G | NP_000155.1:n.1152+760T>G | |
| NM_000164.3:c.1152+760T>G | NP_000155.1:n.1152+760T>G | |
| NM_001308418.1:c.1044+760T>G | NP_001295347.1:n.1044+760T>G | |
| XM_011526709.1:c.1278+760T>G | XP_011525011.1:n.1278+760T>G | |
| XM_011526710.1:c.1278+760T>G | XP_011525012.1:n.1278+760T>G | |
| XM_011526711.1:c.1170+760T>G | XP_011525013.1:n.1170+760T>G | |
| XM_011526712.1:c.1044+760T>G | XP_011525014.1:n.1044+760T>G | |
| XM_011526713.1:c.1029+760T>G | XP_011525015.1:n.1029+760T>G | |
| XM_011526714.1:c.861+760T>G | XP_011525016.1:n.861+760T>G | |
| XM_011526715.1:c.861+760T>G | XP_011525017.1:n.861+760T>G | |
| XR_935791.1:n.1171+760T>G | ||
| XM_011526709.2:c.1278+760T>G | XP_011525011.1:n.1278+760T>G | |
| XM_011526710.2:c.1278+760T>G | XP_011525012.1:n.1278+760T>G | |
| XM_011526711.2:c.1170+760T>G | XP_011525013.1:n.1170+760T>G | |
| XM_011526713.2:c.1029+760T>G | XP_011525015.1:n.1029+760T>G | |
| XM_011526714.2:c.861+760T>G | XP_011525016.1:n.861+760T>G | |
| XM_011526715.2:c.861+760T>G | XP_011525017.1:n.861+760T>G | |
| XM_017026584.1:c.807+760T>G | XP_016882073.1:n.807+760T>G | |
| XM_017026585.1:c.786+760T>G | XP_016882074.1:n.786+760T>G | |
| XM_017026586.1:c.663+760T>G | XP_016882075.1:n.663+760T>G | |
| XM_017026587.1:c.660+760T>G | XP_016882076.1:n.660+760T>G | |
| XR_001753655.1:n.1247+760T>G | ||
| XR_935791.2:n.1177+760T>G | ||
| NM_000164.4:c.1152+760T>G MANE Select | NP_000155.1:n.1152+760T>G | |
| NM_001308418.2:c.1044+760T>G | NP_001295347.1:n.1044+760T>G |