Linked Data
ClinVar Variation Id:
1078789
ClinVar RCV Id:
RCV001393825
dbSNP Id:
rs1451561916
gnomAD v4:
7-147132237-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147132237T>C , CM000669.2:g.147132237T>C | GRCh38 |
| NC_000007.13:g.146829329T>C , CM000669.1:g.146829329T>C | GRCh37 |
| NC_000007.12:g.146460262T>C | NCBI36 |
| NG_007092.2:g.1020877T>C | |
| NG_007092.3:g.1021237T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.1084-8T>C MANE Select | ENSP00000354778.3:n.1084-8T>C | |
| ENST00000636561.1:n.987-8T>C | ||
| ENST00000636870.1:n.946-8T>C | ||
| ENST00000637150.1:n.1013-8T>C | ||
| ENST00000637694.1:n.987-8T>C | ||
| ENST00000637825.1:n.567-8T>C | ||
| ENST00000638117.1:n.987-8T>C | ||
| ENST00000361727.7:c.1084-8T>C | ENSP00000354778.3:n.1084-8T>C | |
| NM_014141.5:c.1084-8T>C | NP_054860.1:n.1084-8T>C | |
| XM_017011950.2:c.1084-8T>C | XP_016867439.1:n.1084-8T>C | |
| NM_014141.6:c.1084-8T>C MANE Select | NP_054860.1:n.1084-8T>C |