Linked Data
dbSNP Id:
rs757669446
ExAC:
17:61565933 C / T
gnomAD v2:
17-61565933-C-T
gnomAD v3:
17-63488572-C-T
gnomAD v4:
17-63488572-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488572C>T , CM000679.2:g.63488572C>T | GRCh38 |
| NC_000017.10:g.61565933C>T , CM000679.1:g.61565933C>T | GRCh37 |
| NC_000017.9:g.58919665C>T | NCBI36 |
| NG_011648.1:g.16500C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290866.10:c.2306-76C>T MANE Select | ENSP00000290866.4:n.2306-76C>T | |
| ENST00000290863.10:c.584-76C>T | ENSP00000290863.6:n.584-76C>T | |
| ENST00000290866.9:c.2306-76C>T | ENSP00000290866.4:n.2306-76C>T | |
| ENST00000413513.7:c.584-76C>T | ENSP00000392247.3:n.584-76C>T | |
| ENST00000428043.5:c.2306-76C>T | ENSP00000397593.2:n.2306-76C>T | |
| ENST00000577647.2:c.584-76C>T | ENSP00000464149.1:n.584-76C>T | |
| ENST00000578839.5:c.*376-76C>T | ENSP00000462110.2:n.*376-76C>T | |
| ENST00000579204.1:c.489C>T | ENSP00000464629.1:n.489C>T | |
| ENST00000579314.5:c.586C>T | ENSP00000462599.1:p.Leu196= | |
| ENST00000582005.5:c.*226-76C>T | ENSP00000462002.1:n.*226-76C>T | |
| ENST00000582761.1:c.74-76C>T | ENSP00000462909.1:n.74-76C>T | |
| ENST00000584865.5:n.252-76C>T | ||
| NM_000789.3:c.2306-76C>T | NP_000780.1:n.2306-76C>T | |
| NM_001178057.1:c.584-76C>T | NP_001171528.1:n.584-76C>T | |
| NM_152830.2:c.584-76C>T | NP_690043.1:n.584-76C>T | |
| XM_005257110.1:c.1757-76C>T | XP_005257167.1:n.1757-76C>T | |
| XM_006721737.2:c.644-76C>T | XP_006721800.2:n.644-76C>T | |
| XM_006721737.3:c.644-76C>T | XP_006721800.2:n.644-76C>T | |
| NM_000789.4:c.2306-76C>T MANE Select | NP_000780.1:n.2306-76C>T | |
| NM_001178057.2:c.584-76C>T | NP_001171528.1:n.584-76C>T | |
| NM_152830.3:c.584-76C>T | NP_690043.1:n.584-76C>T | |
| NM_001382700.1:c.1739-76C>T | NP_001369629.1:n.1739-76C>T | |
| NM_001382701.1:c.1454-76C>T | NP_001369630.1:n.1454-76C>T | |
| NM_001382702.1:c.236-76C>T | NP_001369631.1:n.236-76C>T | |
| NR_168483.1:n.608C>T |