Linked Data
ClinVar Variation Id:
39120
ClinVar RCV Id:
RCV000032392
dbSNP Id:
rs199422307
gnomAD v4:
5-1255401-A-G
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1255401A>G , CM000667.2:g.1255401A>G | GRCh38 |
| NC_000005.9:g.1255516A>G , CM000667.1:g.1255516A>G | GRCh37 |
| NC_000005.8:g.1308516A>G | NCBI36 |
| NG_009265.1:g.44647T>C , LRG_343:g.44647T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310581.10:c.3043T>C MANE Select | ENSP00000309572.5:p.Cys1015Arg | |
| ENST00000656021.1:c.*2589T>C | ENSP00000499759.1:n.*2589T>C | |
| ENST00000667927.1:n.331T>C | ||
| ENST00000310581.9:c.3043T>C | ENSP00000309572.5:p.Cys1015Arg | |
| ENST00000334602.10:c.2854T>C | ENSP00000334346.6:p.Cys952Arg | |
| ENST00000460137.6:c.2636T>C | ENSP00000425003.1:n.2636T>C | |
| ENST00000484238.6:n.1485T>C | ||
| NM_001193376.1:c.2854T>C | NP_001180305.1:p.Cys952Arg | |
| NM_198253.2:c.3043T>C , LRG_343t1:c.3043T>C | NP_937983.2:p.Cys1015Arg | |
| XM_011514104.1:c.1513T>C | XP_011512406.1:p.Cys505Arg | |
| XM_011514105.1:c.1399T>C | XP_011512407.1:p.Cys467Arg | |
| XM_011514106.1:c.1399T>C | XP_011512408.1:p.Cys467Arg | |
| NR_149162.1:n.2730T>C | ||
| NR_149163.1:n.2694T>C | ||
| NM_001193376.2:c.2854T>C | NP_001180305.1:p.Cys952Arg | |
| NM_198253.3:c.3043T>C MANE Select | NP_937983.2:p.Cys1015Arg | |
| NR_149162.2:n.2751T>C | ||
| NR_149163.2:n.2715T>C | ||
| NM_001193376.3:c.2854T>C | NP_001180305.1:p.Cys952Arg | |
| NR_149162.3:n.2751T>C | ||
| NR_149163.3:n.2715T>C |