Linked Data
dbSNP Id:
rs775545673
ExAC:
16:28856359 A / G
gnomAD v2:
16-28856359-A-G
gnomAD v3:
16-28845038-A-G
gnomAD v4:
16-28845038-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845038A>G , CM000678.2:g.28845038A>G | GRCh38 |
| NC_000016.9:g.28856359A>G , CM000678.1:g.28856359A>G | GRCh37 |
| NC_000016.8:g.28763860A>G | NCBI36 |
| NG_008964.1:g.6371T>C | |
| NG_029706.2:g.3439A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.432T>C MANE Select | ENSP00000322439.3:p.Thr144= | |
| ENST00000313511.7:c.432T>C | ENSP00000322439.3:p.Thr144= | |
| ENST00000565012.1:c.265T>C | ENSP00000455007.1:p.Cys89Arg | |
| NM_003321.4:c.432T>C | NP_003312.3:p.Thr144= | |
| XM_011545928.1:c.432T>C | XP_011544230.1:p.Thr144= | |
| NM_001365360.1:c.432T>C | NP_001352289.1:p.Thr144= | |
| NM_003321.5:c.432T>C MANE Select | NP_003312.3:p.Thr144= | |
| NM_001365360.2:c.432T>C | NP_001352289.1:p.Thr144= |