Linked Data
dbSNP Id:
rs2142086556
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152828T>C , CM000677.2:g.80152828T>C | GRCh38 |
| NC_000015.9:g.80445170T>C , CM000677.1:g.80445170T>C | GRCh37 |
| NC_000015.8:g.78232225T>C | NCBI36 |
| NG_012833.1:g.4830T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-227T>C | ENSP00000507680.1:n.-227T>C | |
| ENST00000261755.9:c.-43T>C | ENSP00000261755.5:n.-43T>C | |
| ENST00000407106.5:c.-107T>C | ENSP00000385080.1:n.-107T>C | |
| ENST00000537726.5:n.40T>C | ||
| ENST00000558022.5:c.-29-198T>C | ENSP00000453152.1:n.-29-198T>C | |
| ENST00000558767.5:n.35T>C | ||
| XM_024449872.1:c.-107T>C | XP_024305640.1:n.-107T>C | |
| NM_001374377.1:c.-107T>C | NP_001361306.1:n.-107T>C | |
| NM_001374380.1:c.-43T>C | NP_001361309.1:n.-43T>C |