Linked Data
ClinVar Variation Id:
550240
ClinVar RCV Id:
RCV000664935
dbSNP Id:
rs80324017
ExAC:
12:103240666 G / A
gnomAD v2:
12-103240666-G-A
gnomAD v3:
12-102846888-G-A
gnomAD v4:
12-102846888-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846888G>A , CM000674.2:g.102846888G>A | GRCh38 |
| NC_000012.11:g.103240666G>A , CM000674.1:g.103240666G>A | GRCh37 |
| NC_000012.10:g.101764796G>A | NCBI36 |
| NG_008690.1:g.75715C>T | |
| NG_008690.2:g.116523C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.969+7C>T MANE Select | ENSP00000448059.1:n.969+7C>T | |
| ENST00000307000.7:c.954+7C>T | ENSP00000303500.2:n.954+7C>T | |
| ENST00000549247.6:n.728+7C>T | ||
| ENST00000551114.2:n.631+7C>T | ||
| ENST00000553106.5:c.969+7C>T | ENSP00000448059.1:n.969+7C>T | |
| ENST00000635477.1:c.74-2457C>T | ||
| ENST00000635528.1:n.484+7C>T | ||
| NM_000277.1:c.969+7C>T | NP_000268.1:n.969+7C>T | |
| XM_011538422.1:c.913-2457C>T | XP_011536724.1:n.913-2457C>T | |
| NM_000277.2:c.969+7C>T | NP_000268.1:n.969+7C>T | |
| NM_001354304.1:c.969+7C>T | NP_001341233.1:n.969+7C>T | |
| NM_000277.3:c.969+7C>T MANE Select | NP_000268.1:n.969+7C>T | |
| NM_001354304.2:c.969+7C>T | NP_001341233.1:n.969+7C>T |