Linked Data
ClinVar Variation Id:
130575
dbSNP Id:
rs45491898
ExAC:
5:149776355 G / C
gnomAD v2:
5-149776355-G-C
gnomAD v3:
5-150396792-G-C
gnomAD v4:
5-150396792-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150396792G>C , CM000667.2:g.150396792G>C | GRCh38 |
| NC_000005.9:g.149776355G>C , CM000667.1:g.149776355G>C | GRCh37 |
| NC_000005.8:g.149756548G>C | NCBI36 |
| NG_011341.1:g.44154G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427724.7:c.4178G>C | ENSP00000390717.3:p.Gly1393Ala | |
| ENST00000643257.2:c.4295G>C MANE Select | ENSP00000493815.1:p.Gly1432Ala | |
| ENST00000650162.1:c.3950G>C | ENSP00000497075.1:p.Gly1317Ala | |
| ENST00000674413.1:c.3694G>C | ||
| ENST00000323668.11:c.4061G>C | ENSP00000325223.6:p.Gly1354Ala | |
| ENST00000377797.7:c.4292G>C | ENSP00000367028.4:p.Gly1431Ala | |
| ENST00000427724.6:c.4178G>C | ENSP00000390717.2:p.Gly1393Ala | |
| ENST00000439160.6:c.4181G>C | ENSP00000406888.2:p.Gly1394Ala | |
| ENST00000445265.6:c.4064G>C | ENSP00000409944.2:p.Gly1355Ala | |
| ENST00000504761.6:c.4292G>C | ENSP00000421655.2:p.Gly1431Ala | |
| ENST00000513346.5:c.4292G>C | ENSP00000427484.1:p.Gly1431Ala | |
| ENST00000515516.1:c.392G>C | ENSP00000426471.1:p.Gly131Ala | |
| NM_000356.3:c.4061G>C | NP_000347.2:p.Gly1354Ala | |
| NM_001135243.1:c.4292G>C | NP_001128715.1:p.Gly1431Ala | |
| NM_001135244.1:c.4181G>C | NP_001128716.1:p.Gly1394Ala | |
| NM_001135245.1:c.4064G>C | NP_001128717.1:p.Gly1355Ala | |
| NM_001195141.1:c.4178G>C | NP_001182070.1:p.Gly1393Ala | |
| XM_005268502.2:c.4406G>C | XP_005268559.1:p.Gly1469Ala | |
| XM_005268503.2:c.4403G>C | XP_005268560.1:p.Gly1468Ala | |
| XM_005268504.2:c.4403G>C | XP_005268561.1:p.Gly1468Ala | |
| XM_005268505.2:c.4295G>C | XP_005268562.1:p.Gly1432Ala | |
| XM_005268506.2:c.4292G>C | XP_005268563.1:p.Gly1431Ala | |
| XM_005268507.2:c.4175G>C | XP_005268564.1:p.Gly1392Ala | |
| XM_011537678.1:c.4226G>C | XP_011535980.1:p.Gly1409Ala | |
| XM_005268502.4:c.4406G>C | XP_005268559.1:p.Gly1469Ala | |
| XM_005268503.4:c.4403G>C | XP_005268560.1:p.Gly1468Ala | |
| XM_005268504.4:c.4403G>C | XP_005268561.1:p.Gly1468Ala | |
| XM_005268505.4:c.4295G>C | XP_005268562.1:p.Gly1432Ala | |
| XM_005268506.4:c.4292G>C | XP_005268563.1:p.Gly1431Ala | |
| XM_005268507.4:c.4175G>C | XP_005268564.1:p.Gly1392Ala | |
| XM_011537678.3:c.4226G>C | XP_011535980.1:p.Gly1409Ala | |
| XM_017009792.2:c.4289G>C | XP_016865281.1:p.Gly1430Ala | |
| XM_017009793.2:c.4115G>C | XP_016865282.1:p.Gly1372Ala | |
| XM_017009794.2:c.4001G>C | XP_016865283.1:p.Gly1334Ala | |
| XR_427778.3:n.4412G>C | ||
| XR_427780.3:n.4301G>C | ||
| NM_000356.4:c.4061G>C | NP_000347.2:p.Gly1354Ala | |
| NM_001135244.2:c.4181G>C | NP_001128716.1:p.Gly1394Ala | |
| NM_001135245.2:c.4064G>C | NP_001128717.1:p.Gly1355Ala | |
| NM_001195141.2:c.4178G>C | NP_001182070.1:p.Gly1393Ala | |
| NM_001371623.1:c.4295G>C MANE Select | NP_001358552.1:p.Gly1432Ala | |
| NM_001135243.2:c.4292G>C | NP_001128715.1:p.Gly1431Ala |