Linked Data
ClinVar Variation Id:
300510
dbSNP Id:
rs775086571
ExAC:
10:73578485 T / C
gnomAD v2:
10-73578485-T-C
gnomAD v3:
10-71818728-T-C
gnomAD v4:
10-71818728-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71818728T>C , CM000672.2:g.71818728T>C | GRCh38 |
| NC_000010.10:g.73578485T>C , CM000672.1:g.73578485T>C | GRCh37 |
| NC_000010.9:g.73248491T>C | NCBI36 |
| NG_009301.1:g.37598A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394936.8:c.1432-4A>G MANE Select | ENSP00000378394.3:n.1432-4A>G | |
| ENST00000394934.4:c.1441-4A>G | ENSP00000378392.2:n.1441-4A>G | |
| ENST00000394936.7:c.1432-4A>G | ENSP00000378394.3:n.1432-4A>G | |
| ENST00000495196.1:n.242-4A>G | ||
| ENST00000610929.3:c.580-4A>G | ENSP00000480857.1:n.580-4A>G | |
| NM_001042465.1:c.1441-4A>G | NP_001035930.1:n.1441-4A>G | |
| NM_001042466.1:c.1438-4A>G | NP_001035931.1:n.1438-4A>G | |
| NM_002778.2:c.1432-4A>G | NP_002769.1:n.1432-4A>G | |
| NM_001042465.2:c.1441-4A>G | NP_001035930.1:n.1441-4A>G | |
| NM_001042466.2:c.1438-4A>G | NP_001035931.1:n.1438-4A>G | |
| NM_002778.3:c.1432-4A>G | NP_002769.1:n.1432-4A>G | |
| NM_002778.4:c.1432-4A>G MANE Select | NP_002769.1:n.1432-4A>G | |
| NM_001042465.3:c.1441-4A>G | NP_001035930.1:n.1441-4A>G | |
| NM_001042466.3:c.1438-4A>G | NP_001035931.1:n.1438-4A>G |