Linked Data
ClinVar Variation Id:
465401
ClinVar RCV Id:
RCV000525612
dbSNP Id:
rs780786555
ExAC:
16:81391407 T / C
gnomAD v2:
16-81391407-T-C
gnomAD v3:
16-81357802-T-C
gnomAD v4:
16-81357802-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81357802T>C , CM000678.2:g.81357802T>C | GRCh38 |
| NC_000016.9:g.81391407T>C , CM000678.1:g.81391407T>C | GRCh37 |
| NC_000016.8:g.79948908T>C | NCBI36 |
| NG_009007.1:g.47837T>C , LRG_242:g.47837T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648349.2:c.*560-8T>C | ENSP00000498114.1:n.*560-8T>C | |
| ENST00000648994.2:c.852-8T>C MANE Select | ENSP00000497351.1:n.852-8T>C | |
| ENST00000650388.1:c.386-8T>C | ENSP00000498081.1:n.386-8T>C | |
| ENST00000568107.2:c.852-8T>C | ENSP00000476795.1:n.852-8T>C | |
| NM_022041.3:c.852-8T>C , LRG_242t1:c.852-8T>C | NP_071324.1:n.852-8T>C | |
| XM_017023734.1:c.213-8T>C | XP_016879223.1:n.213-8T>C | |
| NM_001377486.1:c.213-8T>C | NP_001364415.1:n.213-8T>C | |
| NM_022041.4:c.852-8T>C MANE Select | NP_071324.1:n.852-8T>C |