Linked Data
dbSNP Id:
rs370712597
ExAC:
2:225368580 T / C
gnomAD v2:
2-225368580-T-C
gnomAD v3:
2-224503863-T-C
gnomAD v4:
2-224503863-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224503863T>C , CM000664.2:g.224503863T>C | GRCh38 |
| NC_000002.11:g.225368580T>C , CM000664.1:g.225368580T>C | GRCh37 |
| NC_000002.10:g.225076824T>C | NCBI36 |
| NG_032169.1:g.86535A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264414.9:c.1207-41A>G MANE Select | ENSP00000264414.4:n.1207-41A>G | |
| ENST00000264414.8:c.1207-41A>G | ENSP00000264414.4:n.1207-41A>G | |
| ENST00000344951.8:c.1009-41A>G | ENSP00000343601.4:n.1009-41A>G | |
| ENST00000409096.5:c.1135-41A>G | ENSP00000387200.1:n.1135-41A>G | |
| ENST00000409777.5:c.1135-41A>G | ENSP00000386525.1:n.1135-41A>G | |
| ENST00000481135.1:n.462A>G | ||
| ENST00000617432.4:c.-70-41A>G | ENSP00000477851.1:n.-70-41A>G | |
| NM_001257197.1:c.1009-41A>G | NP_001244126.1:n.1009-41A>G | |
| NM_001257198.1:c.1225-41A>G | NP_001244127.1:n.1225-41A>G | |
| NM_003590.4:c.1207-41A>G | NP_003581.1:n.1207-41A>G | |
| XM_006712800.2:c.1174-41A>G | XP_006712863.2:n.1174-41A>G | |
| XM_011511994.1:c.1060-41A>G | XP_011510296.1:n.1060-41A>G | |
| XM_011511995.1:c.1165-41A>G | XP_011510297.1:n.1165-41A>G | |
| XM_011511996.1:c.1015-41A>G | XP_011510298.1:n.1015-41A>G | |
| XM_011511997.1:c.907-41A>G | XP_011510299.1:n.907-41A>G | |
| XM_011511994.3:c.1060-41A>G | XP_011510296.1:n.1060-41A>G | |
| XM_011511996.2:c.1015-41A>G | XP_011510298.1:n.1015-41A>G | |
| NM_003590.5:c.1207-41A>G MANE Select | NP_003581.1:n.1207-41A>G | |
| NM_001257198.2:c.1225-41A>G | NP_001244127.1:n.1225-41A>G | |
| NM_001257197.2:c.1009-41A>G | NP_001244126.1:n.1009-41A>G |