Linked Data
dbSNP Id:
rs11123857
gnomAD v2:
2-101603812-A-G
gnomAD v3:
2-100987350-A-G
gnomAD v4:
2-100987350-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.100987350A>G , CM000664.2:g.100987350A>G | GRCh38 |
| NC_000002.11:g.101603812A>G , CM000664.1:g.101603812A>G | GRCh37 |
| NC_000002.10:g.100970244A>G | NCBI36 |
| NG_023259.1:g.172200A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335681.10:c.1630-729A>G MANE Select | ENSP00000338283.5:n.1630-729A>G | |
| ENST00000335681.9:c.1630-729A>G | ENSP00000338283.5:n.1630-729A>G | |
| ENST00000433408.1:c.125-729A>G | ||
| ENST00000450763.1:c.426+4973A>G | ENSP00000392125.1:n.426+4973A>G | |
| ENST00000474550.5:n.5936A>G | ||
| NM_002518.3:c.1630-729A>G | NP_002509.2:n.1630-729A>G | |
| XM_005263953.1:c.1825-729A>G | XP_005264010.1:n.1825-729A>G | |
| XM_005263954.1:c.1825-729A>G | XP_005264011.1:n.1825-729A>G | |
| XM_005263957.1:c.1711-729A>G | XP_005264014.1:n.1711-729A>G | |
| XM_005263959.1:c.1825-729A>G | XP_005264016.1:n.1825-729A>G | |
| XM_005263960.1:c.1516-729A>G | XP_005264017.1:n.1516-729A>G | |
| XM_005263961.3:c.1258-729A>G | XP_005264018.1:n.1258-729A>G | |
| XM_011511242.1:c.1540-729A>G | XP_011509544.1:n.1540-729A>G | |
| XR_922928.1:n.1827-729A>G | ||
| XM_005263953.2:c.1825-729A>G | XP_005264010.1:n.1825-729A>G | |
| XM_005263959.2:c.1825-729A>G | XP_005264016.1:n.1825-729A>G | |
| XM_005263960.2:c.1516-729A>G | XP_005264017.1:n.1516-729A>G | |
| XM_005263961.4:c.1258-729A>G | XP_005264018.1:n.1258-729A>G | |
| XM_011511242.2:c.1540-729A>G | XP_011509544.1:n.1540-729A>G | |
| XM_017004214.1:c.1825-729A>G | XP_016859703.1:n.1825-729A>G | |
| XM_017004215.1:c.1825-729A>G | XP_016859704.1:n.1825-729A>G | |
| XM_017004216.1:c.1825-729A>G | XP_016859705.1:n.1825-729A>G | |
| XM_017004217.1:c.1516-729A>G | XP_016859706.1:n.1516-729A>G | |
| NM_002518.4:c.1630-729A>G MANE Select | NP_002509.2:n.1630-729A>G |