Linked Data
dbSNP Id:
rs779857255
ExAC:
1:94544902 A / G
gnomAD v2:
1-94544902-A-G
gnomAD v4:
1-94079346-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94079346A>G , CM000663.2:g.94079346A>G | GRCh38 |
| NC_000001.10:g.94544902A>G , CM000663.1:g.94544902A>G | GRCh37 |
| NC_000001.9:g.94317490A>G | NCBI36 |
| NG_009073.1:g.46804T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1215T>C MANE Select | ENSP00000359245.3:p.Pro405= | |
| ENST00000649773.1:c.1215T>C | ENSP00000496882.1:p.Pro405= | |
| ENST00000370225.3:c.1215T>C | ENSP00000359245.3:p.Pro405= | |
| NM_000350.2:c.1215T>C | NP_000341.2:p.Pro405= | |
| NM_000350.3:c.1215T>C MANE Select | NP_000341.2:p.Pro405= |