Linked Data
dbSNP Id:
rs3778151
gnomAD v2:
6-154393680-T-C
gnomAD v3:
6-154072545-T-C
gnomAD v4:
6-154072545-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.154072545T>C , CM000668.2:g.154072545T>C | GRCh38 |
| NC_000006.11:g.154393680T>C , CM000668.1:g.154393680T>C | GRCh37 |
| NC_000006.10:g.154435373T>C | NCBI36 |
| NG_021208.1:g.67045T>C | |
| NG_021208.2:g.67045T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330432.12:c.291-17281T>C MANE Select | ENSP00000328264.7:n.291-17281T>C | |
| ENST00000229768.9:c.291-17281T>C | ENSP00000229768.5:n.291-17281T>C | |
| ENST00000330432.11:c.291-17281T>C | ENSP00000328264.7:n.291-17281T>C | |
| ENST00000337049.8:c.291-17281T>C | ENSP00000338381.4:n.291-17281T>C | |
| ENST00000360422.8:c.477-17281T>C | ENSP00000353598.5:n.477-17281T>C | |
| ENST00000414028.6:c.291-17281T>C | ENSP00000399359.2:n.291-17281T>C | |
| ENST00000419506.6:c.291-17281T>C | ENSP00000403549.2:n.291-17281T>C | |
| ENST00000428397.6:c.291-17281T>C | ENSP00000411903.2:n.291-17281T>C | |
| ENST00000434900.6:c.570-17281T>C | ENSP00000394624.2:n.570-17281T>C | |
| ENST00000435918.6:c.291-17281T>C | ENSP00000413752.2:n.291-17281T>C | |
| ENST00000452687.6:c.291-17281T>C | ENSP00000410497.2:n.291-17281T>C | |
| ENST00000518759.5:c.48-17281T>C | ENSP00000430260.1:n.48-17281T>C | |
| ENST00000519083.5:c.291-17281T>C | ENSP00000431048.1:n.291-17281T>C | |
| ENST00000520282.5:c.435-17281T>C | ENSP00000430247.1:n.435-17281T>C | |
| ENST00000520708.5:c.-10-17281T>C | ENSP00000430876.1:n.-10-17281T>C | |
| ENST00000522739.5:c.291-17281T>C | ENSP00000428018.1:n.291-17281T>C | |
| ENST00000523520.1:n.594-970T>C | ||
| ENST00000524150.2:c.291-18407T>C | ENSP00000430575.1:n.291-18407T>C | |
| ENST00000524163.5:c.291-17281T>C | ENSP00000430097.1:n.291-17281T>C | |
| NM_000914.4:c.291-17281T>C | NP_000905.3:n.291-17281T>C | |
| NM_001008503.2:c.291-17281T>C | NP_001008503.2:n.291-17281T>C | |
| NM_001008504.3:c.291-17281T>C | NP_001008504.2:n.291-17281T>C | |
| NM_001008505.2:c.291-17281T>C | NP_001008505.2:n.291-17281T>C | |
| NM_001145279.3:c.570-17281T>C | NP_001138751.1:n.570-17281T>C | |
| NM_001145280.3:c.-10-17281T>C | NP_001138752.1:n.-10-17281T>C | |
| NM_001145281.2:c.48-17281T>C | NP_001138753.1:n.48-17281T>C | |
| NM_001145282.2:c.291-17281T>C | NP_001138754.1:n.291-17281T>C | |
| NM_001145283.2:c.291-17281T>C | NP_001138755.1:n.291-17281T>C | |
| NM_001145284.3:c.291-17281T>C | NP_001138756.1:n.291-17281T>C | |
| NM_001145285.2:c.291-17281T>C | NP_001138757.1:n.291-17281T>C | |
| NM_001145286.2:c.291-17281T>C | NP_001138758.1:n.291-17281T>C | |
| NM_001285522.1:c.290+32711T>C | NP_001272451.1:n.290+32711T>C | |
| NM_001285523.1:c.291-17281T>C | NP_001272452.1:n.291-17281T>C | |
| NM_001285524.1:c.570-17281T>C | NP_001272453.1:n.570-17281T>C | |
| NR_104348.1:n.425-17281T>C | ||
| NR_104349.1:n.425-17281T>C | ||
| NR_104350.1:n.425-18407T>C | ||
| NR_104351.1:n.425-17281T>C | ||
| XM_006715497.2:c.*5-970T>C | XP_006715560.1:n.*5-970T>C | |
| XM_011535849.1:c.570-17281T>C | XP_011534151.1:n.570-17281T>C | |
| NM_001285523.2:c.291-17281T>C | NP_001272452.1:n.291-17281T>C | |
| XM_017010907.2:c.477-970T>C | XP_016866396.1:n.477-970T>C | |
| NM_000914.5:c.291-17281T>C MANE Select | NP_000905.3:n.291-17281T>C | |
| NM_001008503.3:c.291-17281T>C | NP_001008503.2:n.291-17281T>C | |
| NM_001008504.4:c.291-17281T>C | NP_001008504.2:n.291-17281T>C | |
| NM_001145279.4:c.570-17281T>C | NP_001138751.1:n.570-17281T>C | |
| NM_001145280.4:c.-10-17281T>C | NP_001138752.1:n.-10-17281T>C | |
| NM_001145281.3:c.48-17281T>C | NP_001138753.1:n.48-17281T>C | |
| NM_001145285.3:c.291-17281T>C | NP_001138757.1:n.291-17281T>C | |
| NM_001145286.3:c.291-17281T>C | NP_001138758.1:n.291-17281T>C | |
| NM_001285523.3:c.291-17281T>C | NP_001272452.1:n.291-17281T>C |