Linked Data
ClinVar Variation Id:
138420
dbSNP Id:
rs75716608
ExAC:
10:69869489 C / T
gnomAD v2:
10-69869489-C-T
gnomAD v3:
10-68109732-C-T
gnomAD v4:
10-68109732-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68109732C>T , CM000672.2:g.68109732C>T | GRCh38 |
| NC_000010.10:g.69869489C>T , CM000672.1:g.69869489C>T | GRCh37 |
| NC_000010.9:g.69539495C>T | NCBI36 |
| NG_032118.1:g.8616C>T , LRG_410:g.8616C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.77+2931C>T | ENSP00000346369.2:n.77+2931C>T | |
| ENST00000373675.4:c.-2+9C>T | ENSP00000362779.4:n.-2+9C>T | |
| ENST00000613327.5:c.-2+9C>T | ENSP00000480757.2:n.-2+9C>T | |
| ENST00000685006.1:c.71+9C>T | ENSP00000510318.1:n.71+9C>T | |
| ENST00000685060.1:n.236+9C>T | ||
| ENST00000685154.1:c.-1-11706C>T | ENSP00000509251.1:n.-1-11706C>T | |
| ENST00000685627.1:c.*10+9C>T | ENSP00000508637.1:n.*10+9C>T | |
| ENST00000686289.1:n.113+3549C>T | ||
| ENST00000687572.1:c.-221+3549C>T | ENSP00000510427.1:n.-221+3549C>T | |
| ENST00000687705.1:c.*248+9C>T | ENSP00000509639.1:n.*248+9C>T | |
| ENST00000688812.1:c.-2+9C>T | ENSP00000510658.1:n.-2+9C>T | |
| ENST00000689218.1:n.228+9C>T | ||
| ENST00000689484.1:c.-221+16474C>T | ENSP00000509884.1:n.-221+16474C>T | |
| ENST00000689797.1:c.-221+21740C>T | ENSP00000510689.1:n.-221+21740C>T | |
| ENST00000690544.1:c.-66+9C>T | ENSP00000508989.1:n.-66+9C>T | |
| ENST00000692038.1:c.*248+9C>T | ENSP00000509220.1:n.*248+9C>T | |
| ENST00000692953.1:n.62+3549C>T | ||
| ENST00000692979.1:c.-2+3549C>T | ENSP00000509849.1:n.-2+3549C>T | |
| ENST00000358913.10:c.-2+9C>T MANE Select | ENSP00000351790.5:n.-2+9C>T | |
| ENST00000354393.6:c.77+2931C>T | ENSP00000346369.2:n.77+2931C>T | |
| ENST00000358913.9:c.-2+9C>T | ENSP00000351790.5:n.-2+9C>T | |
| ENST00000373675.3:c.-2+9C>T | ENSP00000362779.3:n.-2+9C>T | |
| ENST00000540630.5:c.-2+9C>T | ENSP00000441668.2:n.-2+9C>T | |
| ENST00000613327.4:c.-1188+9C>T | ENSP00000480757.1:n.-1188+9C>T | |
| NM_001256267.1:c.-2+9C>T | NP_001243196.1:n.-2+9C>T | |
| NM_001256268.1:c.-1188+9C>T | NP_001243197.1:n.-1188+9C>T | |
| NM_032578.3:c.-2+9C>T , LRG_410t1:c.-2+9C>T | NP_115967.2:n.-2+9C>T | |
| NR_045662.3:n.329+2931C>T | ||
| NR_045663.3:n.291+9C>T | ||
| XM_006718043.2:c.-2+9C>T | XP_006718106.1:n.-2+9C>T | |
| XM_017016833.1:c.77+2931C>T | XP_016872322.1:n.77+2931C>T | |
| XM_017016834.2:c.-1-11706C>T | XP_016872323.1:n.-1-11706C>T | |
| XM_024448236.1:c.-221+3549C>T | XP_024304004.1:n.-221+3549C>T | |
| NR_045662.4:n.439+2931C>T | ||
| NR_045663.4:n.236+9C>T | ||
| NM_001256267.2:c.-2+9C>T | NP_001243196.1:n.-2+9C>T | |
| NM_001256268.2:c.-1188+9C>T | NP_001243197.1:n.-1188+9C>T | |
| NM_032578.4:c.-2+9C>T MANE Select | NP_115967.2:n.-2+9C>T |