Linked Data
ClinVar Variation Id:
209153
dbSNP Id:
rs200440128
ExAC:
6:99374801 G / A
gnomAD v2:
6-99374801-G-A
gnomAD v3:
6-98926925-G-A
gnomAD v4:
6-98926925-G-A
COSMIC:
COSM3079957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98926925G>A , CM000668.2:g.98926925G>A | GRCh38 |
| NC_000006.11:g.99374801G>A , CM000668.1:g.99374801G>A | GRCh37 |
| NC_000006.10:g.99481522G>A | NCBI36 |
| NG_033903.1:g.26082C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369244.7:c.64C>T MANE Select | ENSP00000358247.1:p.Arg22Ter | |
| ENST00000229971.2:c.64C>T | ENSP00000229971.1:p.Arg22Ter | |
| ENST00000369244.6:c.64C>T | ENSP00000358247.1:p.Arg22Ter | |
| NM_001278716.1:c.64C>T | NP_001265645.1:p.Arg22Ter | |
| NM_012160.4:c.64C>T | NP_036292.2:p.Arg22Ter | |
| NR_103836.1:n.455C>T | ||
| NR_103837.1:n.455C>T | ||
| XM_005266930.1:c.64C>T | XP_005266987.1:p.Arg22Ter | |
| XM_011535748.1:c.64C>T | XP_011534050.1:p.Arg22Ter | |
| XM_005266930.3:c.64C>T | XP_005266987.1:p.Arg22Ter | |
| XM_011535748.3:c.64C>T | XP_011534050.1:p.Arg22Ter | |
| XM_017010726.1:c.64C>T | XP_016866215.1:p.Arg22Ter | |
| XM_017010727.2:c.64C>T | XP_016866216.1:p.Arg22Ter | |
| XM_017010728.1:c.-739C>T | XP_016866217.1:n.-739C>T | |
| NM_001278716.2:c.64C>T MANE Select | NP_001265645.1:p.Arg22Ter | |
| NR_103836.2:n.395C>T | ||
| NR_103837.2:n.395C>T | ||
| NM_012160.5:c.64C>T | NP_036292.2:p.Arg22Ter |