Linked Data
ClinVar Variation Id:
2648242
ClinVar RCV Id:
RCV003421479
dbSNP Id:
rs766455383
ExAC:
17:72863086 A / G
gnomAD v2:
17-72863086-A-G
gnomAD v3:
17-74866964-A-G
gnomAD v4:
17-74866964-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74866964A>G , CM000679.2:g.74866964A>G | GRCh38 |
| NC_000017.10:g.72863086A>G , CM000679.1:g.72863086A>G | GRCh37 |
| NC_000017.9:g.70374681A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293195.10:c.178-88T>C MANE Select | ENSP00000293195.5:n.178-88T>C | |
| ENST00000293195.9:c.178-88T>C | ENSP00000293195.5:n.178-88T>C | |
| ENST00000413947.6:c.271-88T>C | ENSP00000408595.2:n.271-88T>C | |
| ENST00000420580.6:c.178-85T>C | ENSP00000414172.2:n.178-85T>C | |
| ENST00000442102.6:c.219T>C | ENSP00000416515.2:p.Ser73= | |
| ENST00000544854.5:c.22-88T>C | ENSP00000445432.1:n.22-88T>C | |
| ENST00000577509.5:c.*134-85T>C | ENSP00000462083.1:n.*134-85T>C | |
| ENST00000577932.1:n.208-88T>C | ||
| ENST00000578473.5:n.863-85T>C | ||
| ENST00000579482.5:c.*287-85T>C | ENSP00000461993.1:n.*287-85T>C | |
| ENST00000579543.1:c.*108-88T>C | ENSP00000462488.1:n.*108-88T>C | |
| ENST00000579893.1:c.22-85T>C | ENSP00000463308.1:n.22-85T>C | |
| ENST00000580492.5:c.178-66T>C | ENSP00000462330.1:n.178-66T>C | |
| ENST00000581219.1:c.219T>C | ENSP00000463934.1:p.Ser73= | |
| ENST00000581530.5:c.178-88T>C | ENSP00000462972.1:n.178-88T>C | |
| ENST00000581969.5:n.245-88T>C | ||
| ENST00000582710.5:c.273-88T>C | ||
| ENST00000582944.5:c.178-88T>C | ENSP00000462183.1:n.178-88T>C | |
| ENST00000583881.5:c.152-85T>C | ENSP00000464670.1:n.152-85T>C | |
| ENST00000583917.5:c.178-85T>C | ENSP00000463940.1:n.178-85T>C | |
| NM_001258012.3:c.219T>C | NP_001244941.2:p.Ser73= | |
| NM_001258013.3:c.271-88T>C | NP_001244942.2:n.271-88T>C | |
| NM_001258014.3:c.178-88T>C | NP_001244943.2:n.178-88T>C | |
| NM_001258015.2:c.178-85T>C | NP_001244944.1:n.178-85T>C | |
| NM_001258016.3:c.22-88T>C | NP_001244945.2:n.22-88T>C | |
| NM_004110.5:c.178-88T>C | NP_004101.3:n.178-88T>C | |
| NM_024417.4:c.178-88T>C | NP_077728.3:n.178-88T>C | |
| NR_047576.2:n.362-85T>C | ||
| XM_006721772.1:c.178-85T>C | XP_006721835.1:n.178-85T>C | |
| XM_011524527.1:c.178-85T>C | XP_011522829.1:n.178-85T>C | |
| XM_011524528.1:c.169-85T>C | XP_011522830.1:n.169-85T>C | |
| XM_011524529.1:c.169-88T>C | XP_011522831.1:n.169-88T>C | |
| XM_011524530.1:c.43-88T>C | XP_011522832.1:n.43-88T>C | |
| XM_011524531.1:c.22-85T>C | XP_011522833.1:n.22-85T>C | |
| XM_011524532.1:c.22-88T>C | XP_011522834.1:n.22-88T>C | |
| XM_011524533.1:c.22-85T>C | XP_011522835.1:n.22-85T>C | |
| XM_006721772.2:c.178-85T>C | XP_006721835.1:n.178-85T>C | |
| XM_011524527.2:c.178-85T>C | XP_011522829.1:n.178-85T>C | |
| XM_011524531.2:c.22-85T>C | XP_011522833.1:n.22-85T>C | |
| XM_011524532.2:c.22-88T>C | XP_011522834.1:n.22-88T>C | |
| XM_011524533.2:c.22-85T>C | XP_011522835.1:n.22-85T>C | |
| XM_024450648.1:c.-521-88T>C | XP_024306416.1:n.-521-88T>C | |
| XM_024450649.1:c.-552-88T>C | XP_024306417.1:n.-552-88T>C | |
| XM_024450650.1:c.-555-85T>C | XP_024306418.1:n.-555-85T>C | |
| XR_002957983.1:n.305-88T>C | ||
| NM_024417.5:c.178-88T>C MANE Select | NP_077728.3:n.178-88T>C | |
| NM_001258012.4:c.219T>C | NP_001244941.2:p.Ser73= | |
| NM_001258013.4:c.271-88T>C | NP_001244942.2:n.271-88T>C | |
| NM_001258014.4:c.178-88T>C | NP_001244943.2:n.178-88T>C | |
| NM_001258015.3:c.178-85T>C | NP_001244944.1:n.178-85T>C | |
| NM_004110.6:c.178-88T>C | NP_004101.3:n.178-88T>C | |
| NR_047576.3:n.325-85T>C |