Linked Data
ClinVar Variation Id:
14860
dbSNP Id:
rs121912543
gnomAD v2:
14-74726324-G-A
gnomAD v3:
14-74259621-G-A
gnomAD v4:
14-74259621-G-A
PubMed:
PMID:11341888
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74259621G>A , CM000676.2:g.74259621G>A | GRCh38 |
| NC_000014.8:g.74726324G>A , CM000676.1:g.74726324G>A | GRCh37 |
| NC_000014.7:g.73796077G>A | NCBI36 |
| NG_013092.1:g.25150G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261980.3:c.599G>A MANE Select | ENSP00000261980.2:p.Arg200Gln | |
| ENST00000261980.2:c.599G>A | ENSP00000261980.2:p.Arg200Gln | |
| NM_182894.2:c.599G>A | NP_878314.1:p.Arg200Gln | |
| XM_011536719.1:c.599G>A | XP_011535021.1:p.Arg200Gln | |
| NM_182894.3:c.599G>A MANE Select | NP_878314.1:p.Arg200Gln |