Linked Data
dbSNP Id:
rs541074107
ExAC:
6:76623941 T / C
gnomAD v2:
6-76623941-T-C
gnomAD v3:
6-75914224-T-C
gnomAD v4:
6-75914224-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75914224T>C , CM000668.2:g.75914224T>C | GRCh38 |
| NC_000006.11:g.76623941T>C , CM000668.1:g.76623941T>C | GRCh37 |
| NC_000006.10:g.76680661T>C | NCBI36 |
| NG_009934.1:g.170033T>C | |
| NG_009934.2:g.170032T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369975.6:c.3505T>C | ENSP00000358992.1:p.Trp1169Arg | |
| ENST00000369977.8:c.3601T>C MANE Select | ENSP00000358994.3:p.Trp1201Arg | |
| ENST00000369985.9:c.3532T>C | ENSP00000359002.3:p.Trp1178Arg | |
| ENST00000664640.1:c.3628T>C | ENSP00000499278.1:p.Trp1210Arg | |
| ENST00000671923.1:c.*1612T>C | ENSP00000500835.1:n.*1612T>C | |
| ENST00000672093.1:c.3601T>C | ENSP00000500710.1:p.Trp1201Arg | |
| ENST00000672162.1:n.1767T>C | ||
| ENST00000369975.5:c.3505T>C | ENSP00000358992.1:p.Trp1169Arg | |
| ENST00000369977.7:c.3601T>C | ENSP00000358994.3:p.Trp1201Arg | |
| ENST00000369981.7:c.3631T>C | ENSP00000358998.4:p.Trp1211Arg | |
| ENST00000369985.8:c.3532T>C | ENSP00000359002.3:p.Trp1178Arg | |
| ENST00000615563.4:c.3532T>C | ENSP00000478013.1:p.Trp1178Arg | |
| ENST00000627432.2:c.3628T>C | ENSP00000487348.1:p.Trp1210Arg | |
| NM_001300899.1:c.3532T>C | NP_001287828.1:p.Trp1178Arg | |
| NM_004999.3:c.3601T>C | NP_004990.3:p.Trp1201Arg | |
| XM_005248719.2:c.3628T>C | XP_005248776.1:p.Trp1210Arg | |
| XM_005248720.2:c.3601T>C | XP_005248777.1:p.Trp1201Arg | |
| XM_005248721.2:c.3589T>C | XP_005248778.1:p.Trp1197Arg | |
| XM_005248722.2:c.3574T>C | XP_005248779.1:p.Trp1192Arg | |
| XM_005248724.2:c.3562T>C | XP_005248781.1:p.Trp1188Arg | |
| XM_005248726.2:c.3505T>C | XP_005248783.1:p.Trp1169Arg | |
| XM_005248719.4:c.3628T>C | XP_005248776.1:p.Trp1210Arg | |
| XM_005248720.4:c.3601T>C | XP_005248777.1:p.Trp1201Arg | |
| XM_005248721.4:c.3589T>C | XP_005248778.1:p.Trp1197Arg | |
| XM_005248722.4:c.3574T>C | XP_005248779.1:p.Trp1192Arg | |
| XM_005248724.4:c.3562T>C | XP_005248781.1:p.Trp1188Arg | |
| XM_005248726.4:c.3505T>C | XP_005248783.1:p.Trp1169Arg | |
| XM_017010899.2:c.3535T>C | XP_016866388.1:p.Trp1179Arg | |
| XM_024446447.1:c.3628T>C | XP_024302215.1:p.Trp1210Arg | |
| XM_024446448.1:c.3562T>C | XP_024302216.1:p.Trp1188Arg | |
| NM_004999.4:c.3601T>C MANE Select | NP_004990.3:p.Trp1201Arg | |
| NM_001300899.2:c.3532T>C | NP_001287828.1:p.Trp1178Arg | |
| NM_001368136.1:c.3505T>C | NP_001355065.1:p.Trp1169Arg | |
| NM_001368137.1:c.3562T>C | NP_001355066.1:p.Trp1188Arg | |
| NM_001368138.1:c.3517T>C | NP_001355067.1:p.Trp1173Arg | |
| NM_001368865.1:c.3628T>C | NP_001355794.1:p.Trp1210Arg | |
| NM_001368866.1:c.3601T>C | NP_001355795.1:p.Trp1201Arg | |
| NR_160538.1:n.3830T>C |