Linked Data
dbSNP Id:
rs777099271
gnomAD v2:
6-154360699-C-T
gnomAD v3:
6-154039564-C-T
gnomAD v4:
6-154039564-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.154039564C>T , CM000668.2:g.154039564C>T | GRCh38 |
| NC_000006.11:g.154360699C>T , CM000668.1:g.154360699C>T | GRCh37 |
| NC_000006.10:g.154402392C>T | NCBI36 |
| NG_021208.1:g.34064C>T | |
| NG_021208.2:g.34064C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330432.12:c.20C>T MANE Select | ENSP00000328264.7:p.Pro7Leu | |
| ENST00000229768.9:c.20C>T | ENSP00000229768.5:p.Pro7Leu | |
| ENST00000330432.11:c.20C>T | ENSP00000328264.7:p.Pro7Leu | |
| ENST00000337049.8:c.20C>T | ENSP00000338381.4:p.Pro7Leu | |
| ENST00000360422.8:c.206C>T | ENSP00000353598.5:p.Pro69Leu | |
| ENST00000414028.6:c.20C>T | ENSP00000399359.2:p.Pro7Leu | |
| ENST00000419506.6:c.20C>T | ENSP00000403549.2:p.Pro7Leu | |
| ENST00000428397.6:c.20C>T | ENSP00000411903.2:p.Pro7Leu | |
| ENST00000434900.6:c.299C>T | ENSP00000394624.2:p.Pro100Leu | |
| ENST00000435918.6:c.20C>T | ENSP00000413752.2:p.Pro7Leu | |
| ENST00000452687.6:c.20C>T | ENSP00000410497.2:p.Pro7Leu | |
| ENST00000518759.5:c.47+29005C>T | ENSP00000430260.1:n.47+29005C>T | |
| ENST00000519083.5:c.20C>T | ENSP00000431048.1:p.Pro7Leu | |
| ENST00000520282.5:c.164C>T | ENSP00000430247.1:p.Pro55Leu | |
| ENST00000520708.5:c.-11+28546C>T | ENSP00000430876.1:n.-11+28546C>T | |
| ENST00000522739.5:c.20C>T | ENSP00000428018.1:p.Pro7Leu | |
| ENST00000523520.1:n.201C>T | ||
| ENST00000524150.2:c.20C>T | ENSP00000430575.1:p.Pro7Leu | |
| ENST00000524163.5:c.20C>T | ENSP00000430097.1:p.Pro7Leu | |
| NM_000914.4:c.20C>T | NP_000905.3:p.Pro7Leu | |
| NM_001008503.2:c.20C>T | NP_001008503.2:p.Pro7Leu | |
| NM_001008504.3:c.20C>T | NP_001008504.2:p.Pro7Leu | |
| NM_001008505.2:c.20C>T | NP_001008505.2:p.Pro7Leu | |
| NM_001145279.3:c.299C>T | NP_001138751.1:p.Pro100Leu | |
| NM_001145280.3:c.-11+28546C>T | NP_001138752.1:n.-11+28546C>T | |
| NM_001145281.2:c.47+29005C>T | NP_001138753.1:n.47+29005C>T | |
| NM_001145282.2:c.20C>T | NP_001138754.1:p.Pro7Leu | |
| NM_001145283.2:c.20C>T | NP_001138755.1:p.Pro7Leu | |
| NM_001145284.3:c.20C>T | NP_001138756.1:p.Pro7Leu | |
| NM_001145285.2:c.20C>T | NP_001138757.1:p.Pro7Leu | |
| NM_001145286.2:c.20C>T | NP_001138758.1:p.Pro7Leu | |
| NM_001285522.1:c.20C>T | NP_001272451.1:p.Pro7Leu | |
| NM_001285523.1:c.20C>T | NP_001272452.1:p.Pro7Leu | |
| NM_001285524.1:c.299C>T | NP_001272453.1:p.Pro100Leu | |
| NR_104348.1:n.154C>T | ||
| NR_104349.1:n.154C>T | ||
| NR_104350.1:n.154C>T | ||
| NR_104351.1:n.154C>T | ||
| XM_006715497.2:c.206C>T | XP_006715560.1:p.Pro69Leu | |
| XM_011535849.1:c.299C>T | XP_011534151.1:p.Pro100Leu | |
| NM_001285523.2:c.20C>T | NP_001272452.1:p.Pro7Leu | |
| XM_017010907.2:c.206C>T | XP_016866396.1:p.Pro69Leu | |
| NM_000914.5:c.20C>T MANE Select | NP_000905.3:p.Pro7Leu | |
| NM_001008503.3:c.20C>T | NP_001008503.2:p.Pro7Leu | |
| NM_001008504.4:c.20C>T | NP_001008504.2:p.Pro7Leu | |
| NM_001145279.4:c.299C>T | NP_001138751.1:p.Pro100Leu | |
| NM_001145280.4:c.-11+28546C>T | NP_001138752.1:n.-11+28546C>T | |
| NM_001145281.3:c.47+29005C>T | NP_001138753.1:n.47+29005C>T | |
| NM_001145285.3:c.20C>T | NP_001138757.1:p.Pro7Leu | |
| NM_001145286.3:c.20C>T | NP_001138758.1:p.Pro7Leu | |
| NM_001285523.3:c.20C>T | NP_001272452.1:p.Pro7Leu |