Linked Data
dbSNP Id:
rs1483012
gnomAD v2:
4-16893893-G-A
gnomAD v3:
4-16892270-G-A
gnomAD v4:
4-16892270-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.16892270G>A , CM000666.2:g.16892270G>A | GRCh38 |
| NC_000004.11:g.16893893G>A , CM000666.1:g.16893893G>A | GRCh37 |
| NC_000004.10:g.16502991G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304523.10:c.132+6084C>T MANE Select | ENSP00000306772.5:n.132+6084C>T | |
| ENST00000304523.9:c.132+6084C>T | ENSP00000306772.5:n.132+6084C>T | |
| ENST00000441778.6:c.132+6084C>T | ENSP00000392089.2:n.132+6084C>T | |
| ENST00000502640.5:c.132+6084C>T | ENSP00000423963.1:n.132+6084C>T | |
| ENST00000504189.1:n.54+801C>T | ||
| ENST00000506732.1:c.60+6084C>T | ENSP00000421767.1:n.60+6084C>T | |
| ENST00000508918.5:c.132+6084C>T | ENSP00000424770.1:n.132+6084C>T | |
| ENST00000510825.5:n.325+6084C>T | ||
| ENST00000512345.5:c.132+6084C>T | ENSP00000424676.1:n.132+6084C>T | |
| ENST00000515064.5:c.132+6084C>T | ENSP00000422552.1:n.132+6084C>T | |
| NM_001130834.2:c.132+6084C>T | NP_001124306.1:n.132+6084C>T | |
| NM_001290.4:c.132+6084C>T | NP_001281.1:n.132+6084C>T | |
| NM_001304434.1:c.132+6084C>T | NP_001291363.1:n.132+6084C>T | |
| NM_001304435.1:c.132+6084C>T | NP_001291364.1:n.132+6084C>T | |
| NR_130734.1:n.485+801C>T | ||
| XM_005248197.2:c.132+6084C>T | XP_005248254.1:n.132+6084C>T | |
| XM_005248201.2:c.132+6084C>T | XP_005248258.1:n.132+6084C>T | |
| XM_005248202.2:c.132+6084C>T | XP_005248259.1:n.132+6084C>T | |
| XM_006713975.2:c.161+801C>T | XP_006714038.1:n.161+801C>T | |
| XM_006713976.2:c.161+801C>T | XP_006714039.1:n.161+801C>T | |
| XM_006713977.2:c.161+801C>T | XP_006714040.1:n.161+801C>T | |
| XM_006713978.2:c.161+801C>T | XP_006714041.1:n.161+801C>T | |
| XM_006713979.2:c.161+801C>T | XP_006714042.1:n.161+801C>T | |
| XM_006713980.2:c.161+801C>T | XP_006714043.1:n.161+801C>T | |
| XM_006713981.2:c.161+801C>T | XP_006714044.1:n.161+801C>T | |
| XM_006713982.2:c.161+801C>T | XP_006714045.1:n.161+801C>T | |
| XM_006713983.2:c.161+801C>T | XP_006714046.1:n.161+801C>T | |
| XM_011513905.1:c.-146+6084C>T | XP_011512207.1:n.-146+6084C>T | |
| XM_005248197.4:c.132+6084C>T | XP_005248254.1:n.132+6084C>T | |
| XM_005248201.3:c.132+6084C>T | XP_005248258.1:n.132+6084C>T | |
| XM_005248202.3:c.132+6084C>T | XP_005248259.1:n.132+6084C>T | |
| XM_006713975.4:c.161+801C>T | XP_006714038.1:n.161+801C>T | |
| XM_006713976.4:c.161+801C>T | XP_006714039.1:n.161+801C>T | |
| XM_006713977.4:c.161+801C>T | XP_006714040.1:n.161+801C>T | |
| XM_006713978.4:c.161+801C>T | XP_006714041.1:n.161+801C>T | |
| XM_006713979.4:c.161+801C>T | XP_006714042.1:n.161+801C>T | |
| XM_006713980.4:c.161+801C>T | XP_006714043.1:n.161+801C>T | |
| XM_006713981.4:c.161+801C>T | XP_006714044.1:n.161+801C>T | |
| XM_006713982.4:c.161+801C>T | XP_006714045.1:n.161+801C>T | |
| XM_006713983.4:c.161+801C>T | XP_006714046.1:n.161+801C>T | |
| XM_011513905.2:c.-146+6084C>T | XP_011512207.1:n.-146+6084C>T | |
| XM_017008812.2:c.161+801C>T | XP_016864301.1:n.161+801C>T | |
| XM_017008813.2:c.132+6084C>T | XP_016864302.1:n.132+6084C>T | |
| XM_017008814.2:c.161+801C>T | XP_016864303.1:n.161+801C>T | |
| XM_017008815.2:c.161+801C>T | XP_016864304.1:n.161+801C>T | |
| XM_017008816.2:c.161+801C>T | XP_016864305.1:n.161+801C>T | |
| XM_017008817.2:c.132+6084C>T | XP_016864306.1:n.132+6084C>T | |
| XM_017008819.2:c.132+6084C>T | XP_016864308.1:n.132+6084C>T | |
| XM_017008820.2:c.132+6084C>T | XP_016864309.1:n.132+6084C>T | |
| XM_017008821.2:c.132+6084C>T | XP_016864310.1:n.132+6084C>T | |
| XM_017008822.1:c.-325-3512C>T | XP_016864311.1:n.-325-3512C>T | |
| XM_024454278.1:c.132+6084C>T | XP_024310046.1:n.132+6084C>T | |
| XM_024454279.1:c.-425+6084C>T | XP_024310047.1:n.-425+6084C>T | |
| NM_001290.5:c.132+6084C>T MANE Select | NP_001281.1:n.132+6084C>T | |
| NM_001130834.3:c.132+6084C>T | NP_001124306.1:n.132+6084C>T | |
| NM_001304434.2:c.132+6084C>T | NP_001291363.1:n.132+6084C>T | |
| NR_130734.2:n.321+801C>T | ||
| NM_001304435.2:c.132+6084C>T | NP_001291364.1:n.132+6084C>T |