Linked Data
dbSNP Id:
rs777761792
ExAC:
5:140075233 G / C
gnomAD v2:
5-140075233-G-C
gnomAD v3:
5-140695648-G-C
gnomAD v4:
5-140695648-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140695648G>C , CM000667.2:g.140695648G>C | GRCh38 |
| NC_000005.9:g.140075233G>C , CM000667.1:g.140075233G>C | GRCh37 |
| NC_000005.8:g.140055417G>C | NCBI36 |
| NG_021415.1:g.9216G>C | |
| NG_032158.1:g.739C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230771.9:c.525+15G>C MANE Select | ENSP00000230771.3:n.525+15G>C | |
| ENST00000503873.6:c.304-90G>C | ENSP00000424516.2:n.304-90G>C | |
| ENST00000509299.6:c.315+15G>C | ENSP00000425695.2:n.315+15G>C | |
| ENST00000520095.6:c.*104-90G>C | ENSP00000429220.1:n.*104-90G>C | |
| ENST00000642452.1:c.491+15G>C | ||
| ENST00000642752.1:c.525+15G>C | ENSP00000493630.1:n.525+15G>C | |
| ENST00000642970.1:c.315+15G>C | ENSP00000496011.1:n.315+15G>C | |
| ENST00000643996.1:c.315+15G>C | ENSP00000495350.1:n.315+15G>C | |
| ENST00000645065.1:c.543+15G>C | ENSP00000493571.1:n.543+15G>C | |
| ENST00000645749.1:c.525+15G>C | ENSP00000494296.1:n.525+15G>C | |
| ENST00000646468.1:c.543+15G>C | ENSP00000494965.1:n.543+15G>C | |
| ENST00000647484.1:c.315+15G>C | ENSP00000494140.1:n.315+15G>C | |
| ENST00000230771.7:c.525+15G>C | ENSP00000230771.3:n.525+15G>C | |
| ENST00000448069.2:c.109-90G>C | ENSP00000407105.2:n.109-90G>C | |
| ENST00000508522.5:c.450+15G>C | ENSP00000423616.1:n.450+15G>C | |
| ENST00000510104.5:c.*325+15G>C | ENSP00000423530.1:n.*325+15G>C | |
| ENST00000513688.1:n.532+15G>C | ||
| ENST00000520095.5:c.*104-90G>C | ENSP00000429220.1:n.*104-90G>C | |
| NM_001278731.1:c.450+15G>C | NP_001265660.1:n.450+15G>C | |
| NM_001278732.1:c.94-90G>C | NP_001265661.1:n.94-90G>C | |
| NM_012208.3:c.525+15G>C | NP_036340.1:n.525+15G>C | |
| XM_011537619.1:c.543+15G>C | XP_011535921.1:n.543+15G>C | |
| XM_011537620.1:c.543+15G>C | XP_011535922.1:n.543+15G>C | |
| NM_001363535.1:c.543+15G>C | NP_001350464.1:n.543+15G>C | |
| NM_001363536.1:c.315+15G>C | NP_001350465.1:n.315+15G>C | |
| XM_017009288.1:c.315+15G>C | XP_016864777.1:n.315+15G>C | |
| XM_017009289.1:c.315+15G>C | XP_016864778.1:n.315+15G>C | |
| XM_017009290.2:c.-210+15G>C | XP_016864779.1:n.-210+15G>C | |
| XM_017009291.1:c.-210+15G>C | XP_016864780.1:n.-210+15G>C | |
| XM_017009292.1:c.-210+15G>C | XP_016864781.1:n.-210+15G>C | |
| NM_012208.4:c.525+15G>C MANE Select | NP_036340.1:n.525+15G>C | |
| NM_001278731.2:c.450+15G>C | NP_001265660.1:n.450+15G>C | |
| NM_001278732.2:c.94-90G>C | NP_001265661.1:n.94-90G>C | |
| NM_001363535.2:c.543+15G>C | NP_001350464.1:n.543+15G>C | |
| NM_001363536.2:c.315+15G>C | NP_001350465.1:n.315+15G>C |