Linked Data
dbSNP Id:
rs2835621
gnomAD v2:
21-38510616-G-A
gnomAD v3:
21-37138316-G-A
gnomAD v4:
21-37138316-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37138316G>A , CM000683.2:g.37138316G>A | GRCh38 |
| NC_000021.8:g.38510616G>A , CM000683.1:g.38510616G>A | GRCh37 |
| NC_000021.7:g.37432486G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411496.2:c.1579-318G>A | ENSP00000387880.2:n.1579-318G>A | |
| ENST00000418766.6:c.1579-318G>A MANE Select | ENSP00000403943.2:n.1579-318G>A | |
| ENST00000450533.6:c.1579-318G>A | ENSP00000408456.2:n.1579-318G>A | |
| ENST00000463216.6:c.649-318G>A | ENSP00000512893.1:n.649-318G>A | |
| ENST00000481605.6:c.376-318G>A | ENSP00000512892.1:n.376-318G>A | |
| ENST00000492275.6:c.649-318G>A | ENSP00000512889.1:n.649-318G>A | |
| ENST00000696811.1:c.1627-318G>A | ENSP00000512890.1:n.1627-318G>A | |
| ENST00000696812.1:c.649-318G>A | ENSP00000512891.1:n.649-318G>A | |
| ENST00000354749.6:c.1579-318G>A | ENSP00000346791.2:n.1579-318G>A | |
| ENST00000355666.5:c.1579-318G>A | ENSP00000347889.1:n.1579-318G>A | |
| ENST00000399017.6:c.1579-318G>A | ENSP00000381981.2:n.1579-318G>A | |
| ENST00000418766.5:c.1579-318G>A | ENSP00000403943.1:n.1579-318G>A | |
| ENST00000438055.5:c.1525-318G>A | ENSP00000391891.1:n.1525-318G>A | |
| ENST00000450533.5:c.1579-318G>A | ENSP00000408456.1:n.1579-318G>A | |
| ENST00000476784.5:n.1388-318G>A | ||
| ENST00000479930.5:n.2961-318G>A | ||
| ENST00000481605.5:n.768-318G>A | ||
| ENST00000485402.5:n.1654-318G>A | ||
| ENST00000540756.5:c.649-318G>A | ENSP00000442875.1:n.649-318G>A | |
| NM_001001894.1:c.1579-318G>A | NP_001001894.1:n.1579-318G>A | |
| NM_003316.3:c.1579-318G>A | NP_003307.3:n.1579-318G>A | |
| XM_005261048.1:c.1627-318G>A | XP_005261105.1:n.1627-318G>A | |
| XM_005261049.1:c.1627-318G>A | XP_005261106.1:n.1627-318G>A | |
| XM_005261050.3:c.1627-318G>A | XP_005261107.1:n.1627-318G>A | |
| XM_005261052.1:c.1579-318G>A | XP_005261109.1:n.1579-318G>A | |
| XM_005261053.1:c.1579-318G>A | XP_005261110.1:n.1579-318G>A | |
| XM_005261054.2:c.1579-318G>A | XP_005261111.1:n.1579-318G>A | |
| XM_005261055.1:c.649-318G>A | XP_005261112.1:n.649-318G>A | |
| XM_005261056.1:c.649-318G>A | XP_005261113.1:n.649-318G>A | |
| XM_011529738.1:c.1627-318G>A | XP_011528040.1:n.1627-318G>A | |
| XM_011529739.1:c.880-318G>A | XP_011528041.1:n.880-318G>A | |
| XM_011529740.1:c.880-318G>A | XP_011528042.1:n.880-318G>A | |
| XM_011529741.1:c.1627-318G>A | XP_011528043.1:n.1627-318G>A | |
| XM_011529742.1:c.1627-318G>A | XP_011528044.1:n.1627-318G>A | |
| NM_001001894.2:c.1579-318G>A | NP_001001894.1:n.1579-318G>A | |
| NM_001320703.1:c.1645-318G>A | NP_001307632.1:n.1645-318G>A | |
| NM_001320704.1:c.1579-318G>A | NP_001307633.1:n.1579-318G>A | |
| NM_001330681.1:c.649-318G>A | NP_001317610.1:n.649-318G>A | |
| NM_001330682.1:c.649-318G>A | NP_001317611.1:n.649-318G>A | |
| NM_001330683.1:c.1579-318G>A | NP_001317612.1:n.1579-318G>A | |
| NM_001353936.1:c.649-318G>A | NP_001340865.1:n.649-318G>A | |
| NM_001353937.1:c.-523-318G>A | NP_001340866.1:n.-523-318G>A | |
| NM_001353938.1:c.-523-318G>A | NP_001340867.1:n.-523-318G>A | |
| NM_003316.4:c.1579-318G>A | NP_003307.3:n.1579-318G>A | |
| XM_005261050.5:c.1627-318G>A | XP_005261107.1:n.1627-318G>A | |
| XM_005261054.3:c.1579-318G>A | XP_005261111.1:n.1579-318G>A | |
| XM_005261055.2:c.649-318G>A | XP_005261112.1:n.649-318G>A | |
| XM_005261056.3:c.649-318G>A | XP_005261113.1:n.649-318G>A | |
| XM_011529739.2:c.880-318G>A | XP_011528041.1:n.880-318G>A | |
| XM_011529740.3:c.880-318G>A | XP_011528042.1:n.880-318G>A | |
| XM_017028458.1:c.1693-318G>A | XP_016883947.1:n.1693-318G>A | |
| XM_017028459.2:c.1693-318G>A | XP_016883948.1:n.1693-318G>A | |
| XM_017028460.2:c.1645-318G>A | XP_016883949.1:n.1645-318G>A | |
| XM_017028461.2:c.1627-318G>A | XP_016883950.1:n.1627-318G>A | |
| XM_017028462.2:c.1627-318G>A | XP_016883951.1:n.1627-318G>A | |
| XM_017028465.1:c.649-318G>A | XP_016883954.1:n.649-318G>A | |
| XR_001754907.1:n.1736-318G>A | ||
| XR_002958632.1:n.1736-318G>A | ||
| NM_001320703.2:c.1645-318G>A | NP_001307632.1:n.1645-318G>A | |
| NM_001320704.2:c.1579-318G>A | NP_001307633.1:n.1579-318G>A | |
| NM_001330681.2:c.649-318G>A | NP_001317610.1:n.649-318G>A | |
| NM_001330682.2:c.649-318G>A | NP_001317611.1:n.649-318G>A | |
| NM_001330683.2:c.1579-318G>A MANE Select | NP_001317612.1:n.1579-318G>A | |
| NM_001353936.2:c.649-318G>A | NP_001340865.1:n.649-318G>A | |
| NM_001353937.2:c.-523-318G>A | NP_001340866.1:n.-523-318G>A | |
| NM_001353938.2:c.-523-318G>A | NP_001340867.1:n.-523-318G>A | |
| NM_001001894.3:c.1579-318G>A | NP_001001894.1:n.1579-318G>A |