Linked Data
dbSNP Id:
rs2274788
gnomAD v2:
1-94674726-T-C
gnomAD v3:
1-94209170-T-C
gnomAD v4:
1-94209170-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94209170T>C , CM000663.2:g.94209170T>C | GRCh38 |
| NC_000001.10:g.94674726T>C , CM000663.1:g.94674726T>C | GRCh37 |
| NC_000001.9:g.94447314T>C | NCBI36 |
| NG_050965.1:g.70899A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260526.11:c.437+84A>G MANE Select | ENSP00000260526.6:n.437+84A>G | |
| ENST00000260526.10:c.437+84A>G | ENSP00000260526.6:n.437+84A>G | |
| ENST00000370217.3:c.437+84A>G | ENSP00000359237.3:n.437+84A>G | |
| ENST00000552844.5:c.437+84A>G | ENSP00000449764.1:n.437+84A>G | |
| NM_004815.3:c.437+84A>G | NP_004806.3:n.437+84A>G | |
| XM_006711048.2:c.245+84A>G | XP_006711111.1:n.245+84A>G | |
| XM_011542438.1:c.437+84A>G | XP_011540740.1:n.437+84A>G | |
| XM_011542439.1:c.437+84A>G | XP_011540741.1:n.437+84A>G | |
| XM_011542440.1:c.245+84A>G | XP_011540742.1:n.245+84A>G | |
| NM_001328664.1:c.437+84A>G | NP_001315593.1:n.437+84A>G | |
| NM_001328665.1:c.245+84A>G | NP_001315594.1:n.245+84A>G | |
| NM_001328666.1:c.437+84A>G | NP_001315595.1:n.437+84A>G | |
| NM_001328667.1:c.245+84A>G | NP_001315596.1:n.245+84A>G | |
| XM_011542439.2:c.437+84A>G | XP_011540741.1:n.437+84A>G | |
| NM_004815.4:c.437+84A>G MANE Select | NP_004806.3:n.437+84A>G | |
| NM_001328664.2:c.437+84A>G | NP_001315593.1:n.437+84A>G | |
| NM_001328665.2:c.245+84A>G | NP_001315594.1:n.245+84A>G | |
| NM_001328666.2:c.437+84A>G | NP_001315595.1:n.437+84A>G | |
| NM_001328667.2:c.245+84A>G | NP_001315596.1:n.245+84A>G |