Linked Data
ClinVar Variation Id:
2648240
ClinVar RCV Id:
RCV003429147
dbSNP Id:
rs374317439
ExAC:
17:72862580 G / A
gnomAD v2:
17-72862580-G-A
gnomAD v3:
17-74866458-G-A
gnomAD v4:
17-74866458-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74866458G>A , CM000679.2:g.74866458G>A | GRCh38 |
| NC_000017.10:g.72862580G>A , CM000679.1:g.72862580G>A | GRCh37 |
| NC_000017.9:g.70374175G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293195.10:c.381C>T MANE Select | ENSP00000293195.5:p.His127= | |
| ENST00000293195.9:c.381C>T | ENSP00000293195.5:p.His127= | |
| ENST00000413947.6:c.474C>T | ENSP00000408595.2:p.His158= | |
| ENST00000420580.6:c.274-214C>T | ENSP00000414172.2:n.274-214C>T | |
| ENST00000442102.6:c.510C>T | ENSP00000416515.2:p.His170= | |
| ENST00000544854.5:c.225C>T | ENSP00000445432.1:p.His75= | |
| ENST00000577509.5:c.*340C>T | ENSP00000462083.1:n.*340C>T | |
| ENST00000578473.5:n.1069C>T | ||
| ENST00000579482.5:c.*493C>T | ENSP00000461993.1:n.*493C>T | |
| ENST00000579543.1:c.*311C>T | ENSP00000462488.1:n.*311C>T | |
| ENST00000579893.1:c.228C>T | ENSP00000463308.1:p.His76= | |
| ENST00000580492.5:c.*127C>T | ENSP00000462330.1:n.*127C>T | |
| ENST00000581219.1:c.486C>T | ENSP00000463934.1:p.His162= | |
| ENST00000581530.5:c.381C>T | ENSP00000462972.1:p.His127= | |
| ENST00000581969.5:n.448C>T | ||
| ENST00000582710.5:c.366-214C>T | ||
| ENST00000582944.5:c.357C>T | ENSP00000462183.1:p.His119= | |
| ENST00000583881.5:c.*103C>T | ENSP00000464670.1:n.*103C>T | |
| ENST00000583917.5:c.384C>T | ENSP00000463940.1:p.His128= | |
| NM_001258012.3:c.510C>T | NP_001244941.2:p.His170= | |
| NM_001258013.3:c.474C>T | NP_001244942.2:p.His158= | |
| NM_001258014.3:c.357C>T | NP_001244943.2:p.His119= | |
| NM_001258015.2:c.274-214C>T | NP_001244944.1:n.274-214C>T | |
| NM_001258016.3:c.225C>T | NP_001244945.2:p.His75= | |
| NM_004110.5:c.381C>T | NP_004101.3:p.His127= | |
| NM_024417.4:c.381C>T | NP_077728.3:p.His127= | |
| NR_047576.2:n.568C>T | ||
| XM_006721772.1:c.384C>T | XP_006721835.1:p.His128= | |
| XM_011524527.1:c.384C>T | XP_011522829.1:p.His128= | |
| XM_011524528.1:c.375C>T | XP_011522830.1:p.His125= | |
| XM_011524529.1:c.372C>T | XP_011522831.1:p.His124= | |
| XM_011524530.1:c.246C>T | XP_011522832.1:p.His82= | |
| XM_011524531.1:c.228C>T | XP_011522833.1:p.His76= | |
| XM_011524532.1:c.225C>T | XP_011522834.1:p.His75= | |
| XM_011524533.1:c.228C>T | XP_011522835.1:p.His76= | |
| XM_006721772.2:c.384C>T | XP_006721835.1:p.His128= | |
| XM_011524527.2:c.384C>T | XP_011522829.1:p.His128= | |
| XM_011524531.2:c.228C>T | XP_011522833.1:p.His76= | |
| XM_011524532.2:c.225C>T | XP_011522834.1:p.His75= | |
| XM_011524533.2:c.228C>T | XP_011522835.1:p.His76= | |
| XM_024450648.1:c.-103C>T | XP_024306416.1:n.-103C>T | |
| XM_024450649.1:c.-349C>T | XP_024306417.1:n.-349C>T | |
| XM_024450650.1:c.-349C>T | XP_024306418.1:n.-349C>T | |
| XR_002957983.1:n.508C>T | ||
| NM_024417.5:c.381C>T MANE Select | NP_077728.3:p.His127= | |
| NM_001258012.4:c.510C>T | NP_001244941.2:p.His170= | |
| NM_001258013.4:c.474C>T | NP_001244942.2:p.His158= | |
| NM_001258014.4:c.357C>T | NP_001244943.2:p.His119= | |
| NM_001258015.3:c.274-214C>T | NP_001244944.1:n.274-214C>T | |
| NM_004110.6:c.381C>T | NP_004101.3:p.His127= | |
| NR_047576.3:n.531C>T |