Linked Data
dbSNP Id:
rs149762843
ExAC:
5:148442555 G / T
gnomAD v2:
5-148442555-G-T
gnomAD v4:
5-149062992-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149062992G>T , CM000667.2:g.149062992G>T | GRCh38 |
| NC_000005.9:g.148442555G>T , CM000667.1:g.148442555G>T | GRCh37 |
| NC_000005.8:g.148422748G>T | NCBI36 |
| NG_007947.2:g.5183C>A , LRG_269:g.5183C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.31C>A MANE Select | ENSP00000423660.1:p.Arg11= | |
| ENST00000674983.1:c.31C>A | ENSP00000502387.1:p.Arg11= | |
| ENST00000675793.1:c.31C>A | ENSP00000502039.1:p.Arg11= | |
| ENST00000676056.1:c.31C>A | ENSP00000501827.1:p.Arg11= | |
| ENST00000323829.9:c.31C>A | ENSP00000313025.5:p.Arg11= | |
| ENST00000504091.1:n.67C>A | ||
| ENST00000504690.5:c.31C>A | ENSP00000425627.1:p.Arg11= | |
| ENST00000511307.5:c.31C>A | ENSP00000421420.1:p.Arg11= | |
| ENST00000511949.5:n.71C>A | ||
| ENST00000512049.5:c.31C>A | ENSP00000421860.1:p.Arg11= | |
| ENST00000513604.5:c.31C>A | ENSP00000423111.1:p.Arg11= | |
| ENST00000515425.5:c.31C>A | ENSP00000423660.1:p.Arg11= | |
| NM_024577.3:c.31C>A , LRG_269t1:c.31C>A | NP_078853.2:p.Arg11= | |
| NM_024577.4:c.31C>A MANE Select | NP_078853.2:p.Arg11= |