Linked Data
dbSNP Id:
rs577685692
gnomAD v2:
10-72201346-A-G
gnomAD v3:
10-70441590-A-G
gnomAD v4:
10-70441590-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70441590A>G , CM000672.2:g.70441590A>G | GRCh38 |
| NC_000010.10:g.72201346A>G , CM000672.1:g.72201346A>G | GRCh37 |
| NC_000010.9:g.71871352A>G | NCBI36 |
| NG_012448.1:g.5120T>C | |
| NG_012448.2:g.11359T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287139.8:c.78T>C MANE Select | ENSP00000287139.3:p.Thr26= | |
| ENST00000287139.7:c.78T>C | ENSP00000287139.3:p.Thr26= | |
| ENST00000414871.1:c.29-5607T>C | ENSP00000394468.1:n.29-5607T>C | |
| NM_018055.4:c.78T>C | NP_060525.3:p.Thr26= | |
| NM_001329906.1:c.-206-5607T>C | NP_001316835.1:n.-206-5607T>C | |
| XM_024448028.1:c.-207+441T>C | XP_024303796.1:n.-207+441T>C | |
| NM_018055.5:c.78T>C MANE Select | NP_060525.3:p.Thr26= | |
| NM_001329906.2:c.-206-5607T>C | NP_001316835.1:n.-206-5607T>C |