Linked Data
dbSNP Id:
rs1387695724
gnomAD v2:
3-15643484-T-G
gnomAD v3:
3-15601977-T-G
gnomAD v4:
3-15601977-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15601977T>G , CM000665.2:g.15601977T>G | GRCh38 |
| NC_000003.11:g.15643484T>G , CM000665.1:g.15643484T>G | GRCh37 |
| NC_000003.10:g.15618488T>G | NCBI36 |
| NG_008019.1:g.5230T>G | |
| NG_008019.2:g.5626T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436193.6:c.-350T>G | ENSP00000394277.2:n.-350T>G | |
| ENST00000671928.2:c.-17+83T>G | ENSP00000500069.2:n.-17+83T>G | |
| ENST00000672892.2:c.-17+83T>G | ENSP00000499944.2:n.-17+83T>G | |
| ENST00000303498.10:c.-293+83T>G | ENSP00000306477.6:n.-293+83T>G | |
| ENST00000417015.3:c.-17+83T>G | ENSP00000403775.3:n.-17+83T>G | |
| ENST00000427382.2:c.-17+330T>G | ENSP00000397113.2:n.-17+330T>G | |
| ENST00000437172.6:c.-205+83T>G | ENSP00000400995.2:n.-205+83T>G | |
| ENST00000449107.7:c.-17+207T>G | ENSP00000388212.2:n.-17+207T>G | |
| ENST00000467027.6:n.214T>G | ||
| ENST00000643237.3:c.-17+83T>G MANE Select | ENSP00000495254.2:n.-17+83T>G | |
| ENST00000646371.1:c.-293+207T>G | ENSP00000495866.1:n.-293+207T>G | |
| ENST00000672065.1:c.44+83T>G | ENSP00000500403.1:n.44+83T>G | |
| ENST00000672112.1:c.-139+83T>G | ENSP00000500193.1:n.-139+83T>G | |
| ENST00000672141.1:c.-17+83T>G | ENSP00000500210.1:n.-17+83T>G | |
| ENST00000672336.1:c.-626T>G | ENSP00000500267.1:n.-626T>G | |
| ENST00000672427.1:c.-17+83T>G | ENSP00000500131.1:n.-17+83T>G | |
| ENST00000672760.1:c.-17+83T>G | ENSP00000500530.1:n.-17+83T>G | |
| ENST00000672968.1:n.20+207T>G | ||
| ENST00000673467.1:c.-17+83T>G | ENSP00000500288.1:n.-17+83T>G | |
| ENST00000673620.1:c.-17+207T>G | ENSP00000500325.1:n.-17+207T>G | |
| ENST00000303498.9:c.44+83T>G | ENSP00000306477.5:n.44+83T>G | |
| ENST00000383778.5:c.-350T>G | ENSP00000373288.4:n.-350T>G | |
| ENST00000417015.1:c.*295+83T>G | ENSP00000403775.1:n.*295+83T>G | |
| ENST00000427382.1:c.-17+330T>G | ENSP00000397113.1:n.-17+330T>G | |
| ENST00000436193.5:c.-350T>G | ENSP00000394277.1:n.-350T>G | |
| ENST00000437172.5:c.-139+83T>G | ENSP00000400995.1:n.-139+83T>G | |
| ENST00000449107.5:c.50+207T>G | ENSP00000388212.1:n.50+207T>G | |
| ENST00000467027.5:n.94+83T>G | ||
| ENST00000471964.5:n.124+83T>G | ||
| ENST00000480711.1:n.147+83T>G | ||
| ENST00000494021.1:n.401+207T>G | ||
| NM_000060.3:c.44+83T>G | NP_000051.1:n.44+83T>G | |
| NM_001281723.1:c.50+207T>G | NP_001268652.1:n.50+207T>G | |
| NM_001281724.1:c.-139+83T>G | NP_001268653.1:n.-139+83T>G | |
| NM_001281725.1:c.-350T>G | NP_001268654.1:n.-350T>G | |
| NM_001281726.1:c.44+83T>G | NP_001268655.1:n.44+83T>G | |
| XM_006713314.2:c.-293+83T>G | XP_006713377.1:n.-293+83T>G | |
| XM_011534041.1:c.-191+83T>G | XP_011532343.1:n.-191+83T>G | |
| NM_000060.4:c.44+83T>G | NP_000051.1:n.44+83T>G | |
| NM_001281723.2:c.50+207T>G | NP_001268652.1:n.50+207T>G | |
| NM_001281724.2:c.-139+83T>G | NP_001268653.1:n.-139+83T>G | |
| NM_001281725.2:c.-350T>G | NP_001268654.1:n.-350T>G | |
| NM_001323582.1:c.-293+83T>G | NP_001310511.1:n.-293+83T>G | |
| XM_011534041.2:c.-191+83T>G | XP_011532343.1:n.-191+83T>G | |
| XM_017007088.1:c.-467+83T>G | XP_016862577.1:n.-467+83T>G | |
| NM_001281723.3:c.-17+207T>G | NP_001268652.2:n.-17+207T>G | |
| NM_001281724.3:c.-205+83T>G | NP_001268653.2:n.-205+83T>G | |
| NM_001370658.1:c.-17+83T>G MANE Select | NP_001357587.1:n.-17+83T>G | |
| NM_001370752.1:c.-17+83T>G | NP_001357681.1:n.-17+83T>G | |
| NM_001370753.1:c.-17+83T>G | NP_001357682.1:n.-17+83T>G | |
| NM_001281726.2:c.-17+83T>G | NP_001268655.2:n.-17+83T>G |