Linked Data
ClinVar Variation Id:
17124
dbSNP Id:
rs121912947
gnomAD v4:
6-33171763-G-A
COSMIC:
COSM308011
PubMed:
PMID:10581026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33171763G>A , CM000668.2:g.33171763G>A | GRCh38 |
| NC_000006.11:g.33139540G>A , CM000668.1:g.33139540G>A | GRCh37 |
| NC_000006.10:g.33247518G>A | NCBI36 |
| NG_011589.1:g.25706C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341947.7:c.3100C>T MANE Select | ENSP00000339915.2:p.Arg1034Cys | |
| ENST00000341947.6:c.3100C>T | ENSP00000339915.2:p.Arg1034Cys | |
| ENST00000361917.5:c.2779C>T | ENSP00000355123.1:p.Arg927Cys | |
| ENST00000374708.8:c.2842C>T | ENSP00000363840.4:p.Arg948Cys | |
| ENST00000477772.1:n.272+5246C>T | ||
| NM_080679.2:c.2779C>T | NP_542410.2:p.Arg927Cys | |
| NM_080680.2:c.3100C>T | NP_542411.2:p.Arg1034Cys | |
| NM_080681.2:c.2842C>T | NP_542412.2:p.Arg948Cys | |
| XM_011514298.1:c.2254C>T | XP_011512600.1:p.Arg752Cys | |
| XM_011514299.1:c.2386C>T | XP_011512601.1:p.Arg796Cys | |
| XM_011514300.1:c.2206C>T | XP_011512602.1:p.Arg736Cys | |
| XM_011514301.1:c.2143C>T | XP_011512603.1:p.Arg715Cys | |
| XM_011514302.1:c.1987C>T | XP_011512604.1:p.Arg663Cys | |
| XM_011514299.2:c.2386C>T | XP_011512601.1:p.Arg796Cys | |
| XM_011514300.2:c.2206C>T | XP_011512602.1:p.Arg736Cys | |
| XM_011514302.2:c.1987C>T | XP_011512604.1:p.Arg663Cys | |
| XM_017010250.1:c.3100C>T | XP_016865739.1:p.Arg1034Cys | |
| XM_017010251.2:c.1918C>T | XP_016865740.1:p.Arg640Cys | |
| NM_080680.3:c.3100C>T MANE Select | NP_542411.2:p.Arg1034Cys | |
| NM_080681.3:c.2842C>T | NP_542412.2:p.Arg948Cys | |
| NM_080679.3:c.2779C>T | NP_542410.2:p.Arg927Cys |