Linked Data
ClinVar Variation Id:
533095
dbSNP Id:
rs959968589
gnomAD v2:
17-73839908-G-A
gnomAD v3:
17-75843827-G-A
gnomAD v4:
17-75843827-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75843827G>A , CM000679.2:g.75843827G>A | GRCh38 |
| NC_000017.10:g.73839908G>A , CM000679.1:g.73839908G>A | GRCh37 |
| NC_000017.9:g.71351503G>A | NCBI36 |
| NG_007266.1:g.5891C>T , LRG_122:g.5891C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588774.2:n.597C>T | ||
| ENST00000592386.6:c.118-308C>T | ENSP00000466826.2:n.118-308C>T | |
| ENST00000699512.1:c.13-308C>T | ENSP00000514407.1:n.13-308C>T | |
| ENST00000699513.1:c.118-308C>T | ENSP00000514408.1:n.118-308C>T | |
| ENST00000207549.9:c.118-308C>T MANE Select | ENSP00000207549.3:n.118-308C>T | |
| ENST00000207549.8:c.118-308C>T | ENSP00000207549.3:n.118-308C>T | |
| ENST00000412096.6:c.118-308C>T | ENSP00000388093.1:n.118-308C>T | |
| ENST00000586108.1:c.118-308C>T | ENSP00000464749.1:n.118-308C>T | |
| ENST00000586147.1:c.117+394C>T | ENSP00000466543.1:n.117+394C>T | |
| ENST00000588774.1:n.487C>T | ||
| ENST00000591563.5:n.199-308C>T | ||
| ENST00000592386.5:c.115-308C>T | ENSP00000466826.1:n.115-308C>T | |
| NM_199242.2:c.118-308C>T , LRG_122t1:c.118-308C>T | NP_954712.1:n.118-308C>T | |
| XM_011524504.1:c.118-308C>T | XP_011522806.1:n.118-308C>T | |
| XM_011524505.1:c.118-308C>T | XP_011522807.1:n.118-308C>T | |
| XM_011524506.1:c.118-308C>T | XP_011522808.1:n.118-308C>T | |
| XM_011524507.1:c.-800C>T | XP_011522809.1:n.-800C>T | |
| XM_011524504.2:c.118-308C>T | XP_011522806.1:n.118-308C>T | |
| XM_011524507.2:c.-800C>T | XP_011522809.1:n.-800C>T | |
| NM_199242.3:c.118-308C>T MANE Select | NP_954712.1:n.118-308C>T |