Linked Data
ClinVar Variation Id:
1240982
ClinVar RCV Id:
RCV001643465
dbSNP Id:
rs2519152
gnomAD v2:
9-136509634-T-C
gnomAD v3:
9-133644512-T-C
gnomAD v4:
9-133644512-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644512T>C , CM000671.2:g.133644512T>C | GRCh38 |
| NC_000009.11:g.136509634T>C , CM000671.1:g.136509634T>C | GRCh37 |
| NC_000009.10:g.135499455T>C | NCBI36 |
| NG_008645.1:g.13150T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393056.8:c.1024+192T>C MANE Select | ENSP00000376776.2:n.1024+192T>C | |
| ENST00000393056.6:c.1024+192T>C | ENSP00000376776.2:n.1024+192T>C | |
| NM_000787.3:c.1024+192T>C | NP_000778.3:n.1024+192T>C | |
| NM_000787.4:c.1024+192T>C MANE Select | NP_000778.3:n.1024+192T>C |