Linked Data
dbSNP Id:
rs2306617
gnomAD v2:
5-125887685-C-G
gnomAD v3:
5-126551993-C-G
gnomAD v4:
5-126551993-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126551993C>G , CM000667.2:g.126551993C>G | GRCh38 |
| NC_000005.9:g.125887685C>G , CM000667.1:g.125887685C>G | GRCh37 |
| NC_000005.8:g.125915584C>G | NCBI36 |
| NG_008600.2:g.48398G>C | |
| NG_008600.3:g.48398G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409134.8:c.1317+28G>C MANE Select | ENSP00000387123.3:n.1317+28G>C | |
| ENST00000458249.6:c.*1226+28G>C | ENSP00000403929.1:n.*1226+28G>C | |
| ENST00000497231.7:n.1744+28G>C | ||
| ENST00000503281.6:c.906+28G>C | ||
| ENST00000635851.1:c.1315+28G>C | ||
| ENST00000636062.1:n.1212+28G>C | ||
| ENST00000636225.1:c.*1261+28G>C | ENSP00000490797.1:n.*1261+28G>C | |
| ENST00000636286.1:n.1035+28G>C | ||
| ENST00000636482.1:n.804+28G>C | ||
| ENST00000636743.1:c.1197+28G>C | ENSP00000489725.1:n.1197+28G>C | |
| ENST00000636808.1:c.*1126+28G>C | ENSP00000490833.1:n.*1126+28G>C | |
| ENST00000636872.1:c.1477+28G>C | ENSP00000490919.1:n.1477+28G>C | |
| ENST00000636879.1:c.1362+28G>C | ENSP00000490811.1:n.1362+28G>C | |
| ENST00000636886.1:c.1116+28G>C | ENSP00000490371.1:n.1116+28G>C | |
| ENST00000637206.1:c.1137+28G>C | ENSP00000489895.1:n.1137+28G>C | |
| ENST00000637272.1:c.1308+28G>C | ENSP00000489686.1:n.1308+28G>C | |
| ENST00000637292.1:c.774-1700G>C | ||
| ENST00000637782.1:c.1317+28G>C | ENSP00000490024.1:n.1317+28G>C | |
| ENST00000638008.1:c.*1161+28G>C | ENSP00000490400.1:n.*1161+28G>C | |
| ENST00000638010.1:n.1263+28G>C | ||
| ENST00000409134.7:c.1317+28G>C | ENSP00000387123.3:n.1317+28G>C | |
| ENST00000447989.6:c.1206+28G>C | ENSP00000414132.2:n.1206+28G>C | |
| ENST00000476328.1:n.82+28G>C | ||
| ENST00000497231.6:n.1527+28G>C | ||
| ENST00000553117.5:c.1125+28G>C | ENSP00000448593.1:n.1125+28G>C | |
| NM_001182.4:c.1317+28G>C | NP_001173.2:n.1317+28G>C | |
| NM_001201377.1:c.1233+28G>C | NP_001188306.1:n.1233+28G>C | |
| NM_001202404.1:c.1206+28G>C | NP_001189333.1:n.1206+28G>C | |
| XM_011543417.1:c.912+28G>C | XP_011541719.1:n.912+28G>C | |
| XM_011543417.2:c.912+28G>C | XP_011541719.1:n.912+28G>C | |
| NM_001182.5:c.1317+28G>C MANE Select | NP_001173.2:n.1317+28G>C | |
| NM_001201377.2:c.1233+28G>C | NP_001188306.1:n.1233+28G>C | |
| NM_001202404.2:c.1125+28G>C | NP_001189333.2:n.1125+28G>C |