Linked Data
ClinVar Variation Id:
318988
dbSNP Id:
rs199705472
ExAC:
16:31200976 C / T
gnomAD v2:
16-31200976-C-T
gnomAD v3:
16-31189655-C-T
gnomAD v4:
16-31189655-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31189655C>T , CM000678.2:g.31189655C>T | GRCh38 |
| NC_000016.9:g.31200976C>T , CM000678.1:g.31200976C>T | GRCh37 |
| NC_000016.8:g.31108477C>T | NCBI36 |
| NG_012889.2:g.14524C>T , LRG_655:g.14524C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.937-10C>T MANE Select | ENSP00000254108.8:n.937-10C>T | |
| ENST00000254108.11:c.937-10C>T | ENSP00000254108.7:n.937-10C>T | |
| ENST00000380244.7:c.934-10C>T | ENSP00000369594.3:n.934-10C>T | |
| ENST00000474990.5:n.231-10C>T | ||
| ENST00000487509.6:n.4112-10C>T | ||
| ENST00000564766.1:n.761-10C>T | ||
| ENST00000566605.5:c.*110-10C>T | ENSP00000455073.1:n.*110-10C>T | |
| ENST00000568685.1:c.940-10C>T | ENSP00000455282.1:n.940-10C>T | |
| ENST00000568901.2:n.311-10C>T | ||
| NM_001170634.1:c.934-10C>T | NP_001164105.1:n.934-10C>T | |
| NM_001170937.1:c.925-10C>T | NP_001164408.1:n.925-10C>T | |
| NM_004960.3:c.937-10C>T , LRG_655t1:c.937-10C>T | NP_004951.1:n.937-10C>T | |
| NR_028388.2:n.1007-10C>T | ||
| XM_005255233.3:c.322-10C>T | XP_005255290.1:n.322-10C>T | |
| XM_011545781.1:c.931-10C>T | XP_011544083.1:n.931-10C>T | |
| XM_011545782.1:c.322-10C>T | XP_011544084.1:n.322-10C>T | |
| XM_005255233.5:c.322-10C>T | XP_005255290.1:n.322-10C>T | |
| XM_011545782.2:c.322-10C>T | XP_011544084.1:n.322-10C>T | |
| XM_024450221.1:c.928-10C>T | XP_024305989.1:n.928-10C>T | |
| NM_004960.4:c.937-10C>T MANE Select | NP_004951.1:n.937-10C>T |