Linked Data
ClinVar Variation Id:
2102382
ClinVar RCV Id:
RCV003764150
dbSNP Id:
rs1770037042
gnomAD v3:
6-32843102-A-G
gnomAD v4:
6-32843102-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843102A>G , CM000668.2:g.32843102A>G | GRCh38 |
| NC_000006.11:g.32810879A>G , CM000668.1:g.32810879A>G | GRCh37 |
| NC_000006.10:g.32918857A>G | NCBI36 |
| NG_009793.3:g.669T>C | |
| NG_028165.1:g.6834T>C | |
| NG_009793.4:g.669T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.169-13T>C | ||
| ENST00000697612.1:n.834T>C | ||
| ENST00000374881.3:c.136-13T>C | ENSP00000364015.2:n.136-13T>C | |
| ENST00000374882.8:c.148-13T>C MANE Select | ENSP00000364016.4:n.148-13T>C | |
| ENST00000650411.1:n.1456T>C | ||
| ENST00000650793.1:n.169-13T>C | ||
| ENST00000374881.2:c.136-13T>C | ENSP00000364015.2:n.136-13T>C | |
| ENST00000374882.7:c.148-13T>C | ENSP00000364016.3:n.148-13T>C | |
| ENST00000395339.7:c.148-13T>C | ENSP00000378748.3:n.148-13T>C | |
| ENST00000484003.1:n.374-13T>C | ||
| NM_004159.4:c.136-13T>C | NP_004150.1:n.136-13T>C | |
| NM_148919.3:c.148-13T>C | NP_683720.2:n.148-13T>C | |
| NM_148919.4:c.148-13T>C MANE Select | NP_683720.2:n.148-13T>C | |
| NM_004159.5:c.136-13T>C | NP_004150.1:n.136-13T>C |