Linked Data
dbSNP Id:
rs762836749
ExAC:
5:70930736 C / G
gnomAD v2:
5-70930736-C-G
gnomAD v4:
5-71634909-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71634909C>G , CM000667.2:g.71634909C>G | GRCh38 |
| NC_000005.9:g.70930736C>G , CM000667.1:g.70930736C>G | GRCh37 |
| NC_000005.8:g.70966492C>G | NCBI36 |
| NG_008882.1:g.52622C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.760-34C>G | ||
| ENST00000505787.8:n.2644-34C>G | ||
| ENST00000509358.7:c.804-34C>G | ENSP00000420994.3:n.804-34C>G | |
| ENST00000509539.3:c.66-34C>G | ENSP00000425474.3:n.66-34C>G | |
| ENST00000510895.7:n.927-34C>G | ||
| ENST00000629193.3:c.690-34C>G | ENSP00000486535.2:n.690-34C>G | |
| ENST00000681968.1:c.297-34C>G | ENSP00000508143.1:n.297-34C>G | |
| ENST00000682045.1:c.660-34C>G | ENSP00000507329.1:n.660-34C>G | |
| ENST00000682214.1:c.411-34C>G | ENSP00000507336.1:n.411-34C>G | |
| ENST00000682499.1:n.1625-34C>G | ||
| ENST00000682541.1:c.804-34C>G | ENSP00000507673.1:n.804-34C>G | |
| ENST00000682687.1:c.804-34C>G | ENSP00000507945.1:n.804-34C>G | |
| ENST00000682727.1:c.804-34C>G | ENSP00000507393.1:n.804-34C>G | |
| ENST00000682876.1:c.933-34C>G | ENSP00000508389.1:n.933-34C>G | |
| ENST00000683098.1:c.803+2724C>G | ENSP00000507670.1:n.803+2724C>G | |
| ENST00000683258.1:c.*525-34C>G | ENSP00000507448.1:n.*525-34C>G | |
| ENST00000683339.1:c.588-34C>G | ENSP00000507758.1:n.588-34C>G | |
| ENST00000683403.1:c.804-34C>G | ENSP00000507896.1:n.804-34C>G | |
| ENST00000683429.1:c.411-34C>G | ENSP00000507697.1:n.411-34C>G | |
| ENST00000683665.1:c.804-34C>G | ENSP00000507068.1:n.804-34C>G | |
| ENST00000683789.1:c.690-34C>G | ENSP00000507012.1:n.690-34C>G | |
| ENST00000683847.1:n.648-34C>G | ||
| ENST00000683882.1:c.804-34C>G | ENSP00000506735.1:n.804-34C>G | |
| ENST00000684024.1:c.*475-34C>G | ENSP00000507175.1:n.*475-34C>G | |
| ENST00000684254.1:c.*530-34C>G | ENSP00000508001.1:n.*530-34C>G | |
| ENST00000684310.1:c.66-34C>G | ENSP00000507550.1:n.66-34C>G | |
| ENST00000684530.1:c.66-34C>G | ENSP00000507439.1:n.66-34C>G | |
| ENST00000684652.1:n.1772C>G | ||
| ENST00000340941.11:c.804-34C>G MANE Select | ENSP00000343657.6:n.804-34C>G | |
| ENST00000340941.10:c.804-34C>G | ENSP00000343657.6:n.804-34C>G | |
| ENST00000505435.3:n.155-34C>G | ||
| ENST00000505787.7:n.618-34C>G | ||
| ENST00000509358.6:c.804-34C>G | ENSP00000420994.2:n.804-34C>G | |
| ENST00000509539.2:c.129-34C>G | ENSP00000425474.2:n.129-34C>G | |
| ENST00000510895.6:n.418-34C>G | ||
| ENST00000512218.6:c.690-34C>G | ENSP00000423202.2:n.690-34C>G | |
| ENST00000629193.2:c.690-34C>G | ENSP00000486535.1:n.690-34C>G | |
| NM_022132.4:c.804-34C>G | NP_071415.1:n.804-34C>G | |
| XM_005248567.1:c.690-34C>G | XP_005248624.1:n.690-34C>G | |
| XM_011543528.1:c.804-34C>G | XP_011541830.1:n.804-34C>G | |
| XM_011543529.1:c.804-34C>G | XP_011541831.1:n.804-34C>G | |
| NM_001363147.1:c.690-34C>G | NP_001350076.1:n.690-34C>G | |
| XM_011543529.2:c.804-34C>G | XP_011541831.1:n.804-34C>G | |
| XM_017009688.1:c.804-34C>G | XP_016865177.1:n.804-34C>G | |
| XR_001742172.1:n.844-34C>G | ||
| NM_022132.5:c.804-34C>G MANE Select | NP_071415.1:n.804-34C>G |