Linked Data
ClinVar Variation Id:
376723
ClinVar RCV Id:
RCV000440005
dbSNP Id:
rs772061268
ExAC:
13:28592624 T / G
gnomAD v2:
13-28592624-T-G
gnomAD v4:
13-28018487-T-G
COSMIC:
COSM24666
PubMed:
PMID:16990784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28018487T>G , CM000675.2:g.28018487T>G | GRCh38 |
| NC_000013.10:g.28592624T>G , CM000675.1:g.28592624T>G | GRCh37 |
| NC_000013.9:g.27490624T>G | NCBI36 |
| NG_007066.1:g.87082A>C , LRG_457:g.87082A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2521A>C MANE Select | ENSP00000241453.7:p.Asn841His | |
| ENST00000241453.11:c.2521A>C | ENSP00000241453.7:p.Asn841His | |
| ENST00000380987.2:c.*433A>C | ENSP00000370374.2:n.*433A>C | |
| NM_004119.2:c.2521A>C , LRG_457t1:c.2521A>C | NP_004110.2:p.Asn841His | |
| NR_130706.1:n.2735A>C | ||
| XM_011535015.1:c.2464A>C | XP_011533317.1:p.Asn822His | |
| XM_011535016.1:c.1996A>C | XP_011533318.1:p.Asn666His | |
| XM_011535017.1:c.1996A>C | XP_011533319.1:p.Asn666His | |
| XM_011535018.1:c.1996A>C | XP_011533320.1:p.Asn666His | |
| XM_011535015.2:c.2464A>C | XP_011533317.1:p.Asn822His | |
| XM_011535017.2:c.1996A>C | XP_011533319.1:p.Asn666His | |
| XM_011535018.2:c.1996A>C | XP_011533320.1:p.Asn666His | |
| XM_017020486.1:c.2305A>C | XP_016875975.1:p.Asn769His | |
| XM_017020487.1:c.1996A>C | XP_016875976.1:p.Asn666His | |
| XM_017020488.1:c.1642A>C | XP_016875977.1:p.Asn548His | |
| XM_017020489.1:c.1624A>C | XP_016875978.1:p.Asn542His | |
| NM_004119.3:c.2521A>C MANE Select | NP_004110.2:p.Asn841His | |
| NR_130706.2:n.2719A>C |