Linked Data
dbSNP Id:
rs746389272
ExAC:
17:61565941 C / G
gnomAD v2:
17-61565941-C-G
gnomAD v4:
17-63488580-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488580C>G , CM000679.2:g.63488580C>G | GRCh38 |
| NC_000017.10:g.61565941C>G , CM000679.1:g.61565941C>G | GRCh37 |
| NC_000017.9:g.58919673C>G | NCBI36 |
| NG_011648.1:g.16508C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290866.10:c.2306-68C>G MANE Select | ENSP00000290866.4:n.2306-68C>G | |
| ENST00000290863.10:c.584-68C>G | ENSP00000290863.6:n.584-68C>G | |
| ENST00000290866.9:c.2306-68C>G | ENSP00000290866.4:n.2306-68C>G | |
| ENST00000413513.7:c.584-68C>G | ENSP00000392247.3:n.584-68C>G | |
| ENST00000428043.5:c.2306-68C>G | ENSP00000397593.2:n.2306-68C>G | |
| ENST00000577647.2:c.584-68C>G | ENSP00000464149.1:n.584-68C>G | |
| ENST00000578839.5:c.*376-68C>G | ENSP00000462110.2:n.*376-68C>G | |
| ENST00000579204.1:c.497C>G | ENSP00000464629.1:n.497C>G | |
| ENST00000579314.5:c.594C>G | ENSP00000462599.1:p.Phe198Leu | |
| ENST00000582005.5:c.*226-68C>G | ENSP00000462002.1:n.*226-68C>G | |
| ENST00000582761.1:c.74-68C>G | ENSP00000462909.1:n.74-68C>G | |
| ENST00000584865.5:n.252-68C>G | ||
| NM_000789.3:c.2306-68C>G | NP_000780.1:n.2306-68C>G | |
| NM_001178057.1:c.584-68C>G | NP_001171528.1:n.584-68C>G | |
| NM_152830.2:c.584-68C>G | NP_690043.1:n.584-68C>G | |
| XM_005257110.1:c.1757-68C>G | XP_005257167.1:n.1757-68C>G | |
| XM_006721737.2:c.644-68C>G | XP_006721800.2:n.644-68C>G | |
| XM_006721737.3:c.644-68C>G | XP_006721800.2:n.644-68C>G | |
| NM_000789.4:c.2306-68C>G MANE Select | NP_000780.1:n.2306-68C>G | |
| NM_001178057.2:c.584-68C>G | NP_001171528.1:n.584-68C>G | |
| NM_152830.3:c.584-68C>G | NP_690043.1:n.584-68C>G | |
| NM_001382700.1:c.1739-68C>G | NP_001369629.1:n.1739-68C>G | |
| NM_001382701.1:c.1454-68C>G | NP_001369630.1:n.1454-68C>G | |
| NM_001382702.1:c.236-68C>G | NP_001369631.1:n.236-68C>G | |
| NR_168483.1:n.616C>G |