Linked Data
ClinVar Variation Id:
790842
ClinVar RCV Id:
RCV000973701
dbSNP Id:
rs371607599
ExAC:
8:142178524 G / A
gnomAD v2:
8-142178524-G-A
gnomAD v3:
8-141168425-G-A
gnomAD v4:
8-141168425-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.141168425G>A , CM000670.2:g.141168425G>A | GRCh38 |
| NC_000008.10:g.142178524G>A , CM000670.1:g.142178524G>A | GRCh37 |
| NC_000008.9:g.142247706G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519811.6:c.2175G>A MANE Select | ENSP00000428714.1:p.Lys725= | |
| ENST00000262585.6:c.1935G>A | ENSP00000262585.2:p.Lys645= | |
| ENST00000424248.2:c.1779G>A | ENSP00000410594.1:p.Lys593= | |
| ENST00000518668.5:c.1948G>A | ||
| ENST00000519811.5:c.2175G>A | ENSP00000428714.1:p.Lys725= | |
| ENST00000520482.1:n.1716G>A | ||
| NM_014957.2:c.1935G>A | NP_055772.2:p.Lys645= | |
| XM_005250838.3:c.1974G>A | XP_005250895.2:p.Lys658= | |
| XM_005250839.2:c.1974G>A | XP_005250896.2:p.Lys658= | |
| XM_005250840.3:c.1818G>A | XP_005250897.2:p.Lys606= | |
| XM_005250841.2:c.1818G>A | XP_005250898.2:p.Lys606= | |
| XM_005250842.3:c.1941G>A | XP_005250899.1:p.Lys647= | |
| XM_005250843.3:c.1431G>A | XP_005250900.1:p.Lys477= | |
| XM_011516933.1:c.1974G>A | XP_011515235.1:p.Lys658= | |
| XM_011516934.1:c.1974G>A | XP_011515236.1:p.Lys658= | |
| XM_011516935.1:c.1608G>A | XP_011515237.1:p.Lys536= | |
| XM_011516936.1:c.1602G>A | XP_011515238.1:p.Lys534= | |
| XM_011516937.1:c.1974G>A | XP_011515239.1:p.Lys658= | |
| XM_011516938.1:c.1143G>A | XP_011515240.1:p.Lys381= | |
| XM_011516939.1:c.672G>A | XP_011515241.1:p.Lys224= | |
| XM_011516940.1:c.672G>A | XP_011515242.1:p.Lys224= | |
| XM_011516941.1:c.1974G>A | XP_011515243.1:p.Lys658= | |
| XM_011516942.1:c.1974G>A | XP_011515244.1:p.Lys658= | |
| XR_242384.2:n.2104G>A | ||
| XR_928310.1:n.2104G>A | ||
| XR_928311.1:n.2104G>A | ||
| XR_928312.1:n.2104G>A | ||
| NM_001352890.2:c.2175G>A | NP_001339819.2:p.Lys725= | |
| NM_001362798.1:c.2175G>A | NP_001349727.1:p.Lys725= | |
| NM_014957.4:c.1974G>A | NP_055772.3:p.Lys658= | |
| NR_148197.2:n.2271G>A | ||
| XM_005250840.5:c.2019G>A | XP_005250897.3:p.Lys673= | |
| XM_005250841.4:c.2019G>A | XP_005250898.3:p.Lys673= | |
| XM_005250842.4:c.1941G>A | XP_005250899.1:p.Lys647= | |
| XM_011516933.2:c.2175G>A | XP_011515235.2:p.Lys725= | |
| XM_011516934.3:c.2175G>A | XP_011515236.2:p.Lys725= | |
| XM_011516937.2:c.2175G>A | XP_011515239.2:p.Lys725= | |
| XM_011516938.3:c.1143G>A | XP_011515240.1:p.Lys381= | |
| XM_011516939.3:c.672G>A | XP_011515241.1:p.Lys224= | |
| XM_011516940.2:c.672G>A | XP_011515242.1:p.Lys224= | |
| XM_011516941.3:c.2175G>A | XP_011515243.2:p.Lys725= | |
| XM_017013241.1:c.1974G>A | XP_016868730.1:p.Lys658= | |
| XM_017013242.1:c.1431G>A | XP_016868731.1:p.Lys477= | |
| XM_017013243.1:c.711G>A | XP_016868732.1:p.Lys237= | |
| XR_001745497.2:n.2321G>A | ||
| XR_001745498.2:n.2321G>A | ||
| XR_928310.3:n.2321G>A | ||
| XR_928312.3:n.2321G>A | ||
| NM_001352890.3:c.2175G>A MANE Select | NP_001339819.2:p.Lys725= | |
| NM_001362798.2:c.2175G>A | NP_001349727.1:p.Lys725= | |
| NM_014957.5:c.1974G>A | NP_055772.3:p.Lys658= | |
| NR_148197.3:n.2294G>A |