Linked Data
dbSNP Id:
rs761078309
ExAC:
16:4812759 T / C
gnomAD v2:
16-4812759-T-C
gnomAD v3:
16-4762758-T-C
gnomAD v4:
16-4762758-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4762758T>C , CM000678.2:g.4762758T>C | GRCh38 |
| NC_000016.9:g.4812759T>C , CM000678.1:g.4812759T>C | GRCh37 |
| NC_000016.8:g.4752760T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219478.11:c.415-2A>G MANE Select | ENSP00000219478.5:n.415-2A>G | |
| ENST00000219478.10:c.415-2A>G | ENSP00000219478.5:n.415-2A>G | |
| ENST00000545009.1:c.415-2A>G | ENSP00000445714.1:n.415-2A>G | |
| ENST00000589422.1:c.415-45A>G | ENSP00000466375.1:n.415-45A>G | |
| NM_001303450.1:c.415-2A>G | NP_001290379.1:n.415-2A>G | |
| NM_021646.2:c.415-2A>G | NP_067678.1:n.415-2A>G | |
| XM_005255243.2:c.64-2A>G | XP_005255300.1:n.64-2A>G | |
| XM_011522453.1:c.415-2A>G | XP_011520755.1:n.415-2A>G | |
| XM_011522454.1:c.-167-45A>G | XP_011520756.1:n.-167-45A>G | |
| NM_021646.3:c.415-2A>G | NP_067678.1:n.415-2A>G | |
| XM_005255243.4:c.64-2A>G | XP_005255300.1:n.64-2A>G | |
| XM_011522453.2:c.415-2A>G | XP_011520755.1:n.415-2A>G | |
| XM_011522454.3:c.-167-45A>G | XP_011520756.1:n.-167-45A>G | |
| XM_017023121.2:c.-210-2A>G | XP_016878610.1:n.-210-2A>G | |
| NM_001303450.2:c.415-2A>G | NP_001290379.1:n.415-2A>G | |
| NM_021646.4:c.415-2A>G MANE Select | NP_067678.1:n.415-2A>G |