Linked Data
ClinVar Variation Id:
347245
dbSNP Id:
rs2237051
ExAC:
4:110901198 G / A
gnomAD v2:
4-110901198-G-A
gnomAD v3:
4-109980042-G-A
gnomAD v4:
4-109980042-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109980042G>A , CM000666.2:g.109980042G>A | GRCh38 |
| NC_000004.11:g.110901198G>A , CM000666.1:g.110901198G>A | GRCh37 |
| NC_000004.10:g.111120647G>A | NCBI36 |
| NG_011441.1:g.72159G>A | |
| NG_011441.2:g.72159G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265171.10:c.2124G>A MANE Select | ENSP00000265171.5:p.Met708Ile | |
| ENST00000652245.1:c.1998G>A | ENSP00000498337.1:p.Met666Ile | |
| ENST00000265171.9:c.2124G>A | ENSP00000265171.5:p.Met708Ile | |
| ENST00000503392.1:c.2124G>A | ENSP00000421384.1:p.Met708Ile | |
| ENST00000509793.5:c.1998G>A | ENSP00000424316.1:p.Met666Ile | |
| NM_001178130.1:c.2124G>A | NP_001171601.1:p.Met708Ile | |
| NM_001178131.1:c.1998G>A | NP_001171602.1:p.Met666Ile | |
| NM_001963.4:c.2124G>A | NP_001954.2:p.Met708Ile | |
| XM_005262796.2:c.2124G>A | XP_005262853.1:p.Met708Ile | |
| XM_005262797.2:c.1998G>A | XP_005262854.1:p.Met666Ile | |
| XM_005262798.2:c.2124G>A | XP_005262855.1:p.Met708Ile | |
| XM_005262800.2:c.2124G>A | XP_005262857.1:p.Met708Ile | |
| XM_005262801.2:c.2124G>A | XP_005262858.1:p.Met708Ile | |
| XM_005262802.2:c.*53G>A | XP_005262859.1:n.*53G>A | |
| XM_006714124.2:c.2124G>A | XP_006714187.1:p.Met708Ile | |
| XM_011531707.1:c.2013G>A | XP_011530009.1:p.Met671Ile | |
| XM_011531708.1:c.2124G>A | XP_011530010.1:p.Met708Ile | |
| XR_427532.2:n.2577G>A | ||
| XR_938699.1:n.2577G>A | ||
| NM_001178130.2:c.2124G>A | NP_001171601.1:p.Met708Ile | |
| NM_001178131.2:c.1998G>A | NP_001171602.1:p.Met666Ile | |
| NM_001357021.1:c.1998G>A | NP_001343950.1:p.Met666Ile | |
| NM_001963.5:c.2124G>A | NP_001954.2:p.Met708Ile | |
| XM_017007845.1:c.2148G>A | XP_016863334.1:p.Met716Ile | |
| XM_017007846.1:c.2148G>A | XP_016863335.1:p.Met716Ile | |
| XM_017007847.1:c.2148G>A | XP_016863336.1:p.Met716Ile | |
| XM_017007848.1:c.2022G>A | XP_016863337.1:p.Met674Ile | |
| XM_017007849.1:c.2148G>A | XP_016863338.1:p.Met716Ile | |
| XM_017007850.1:c.2148G>A | XP_016863339.1:p.Met716Ile | |
| XM_017007851.1:c.2148G>A | XP_016863340.1:p.Met716Ile | |
| XM_017007853.1:c.2148G>A | XP_016863342.1:p.Met716Ile | |
| XM_017007855.1:c.*53G>A | XP_016863344.1:n.*53G>A | |
| XR_001741156.1:n.2601G>A | ||
| XR_001741157.1:n.2601G>A | ||
| NM_001178130.3:c.2124G>A | NP_001171601.1:p.Met708Ile | |
| NM_001178131.3:c.1998G>A | NP_001171602.1:p.Met666Ile | |
| NM_001357021.2:c.1998G>A | NP_001343950.1:p.Met666Ile | |
| NM_001963.6:c.2124G>A MANE Select | NP_001954.2:p.Met708Ile |