Linked Data
ClinVar Variation Id:
376718
ClinVar RCV Id:
RCV000427616
dbSNP Id:
rs749281035
COSMIC:
COSM19639
PubMed:
PMID:15625552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28018485G>T , CM000675.2:g.28018485G>T | GRCh38 |
| NC_000013.10:g.28592622G>T , CM000675.1:g.28592622G>T | GRCh37 |
| NC_000013.9:g.27490622G>T | NCBI36 |
| NG_007066.1:g.87084C>A , LRG_457:g.87084C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2523C>A MANE Select | ENSP00000241453.7:p.Asn841Lys | |
| ENST00000241453.11:c.2523C>A | ENSP00000241453.7:p.Asn841Lys | |
| ENST00000380987.2:c.*435C>A | ENSP00000370374.2:n.*435C>A | |
| NM_004119.2:c.2523C>A , LRG_457t1:c.2523C>A | NP_004110.2:p.Asn841Lys | |
| NR_130706.1:n.2737C>A | ||
| XM_011535015.1:c.2466C>A | XP_011533317.1:p.Asn822Lys | |
| XM_011535016.1:c.1998C>A | XP_011533318.1:p.Asn666Lys | |
| XM_011535017.1:c.1998C>A | XP_011533319.1:p.Asn666Lys | |
| XM_011535018.1:c.1998C>A | XP_011533320.1:p.Asn666Lys | |
| XM_011535015.2:c.2466C>A | XP_011533317.1:p.Asn822Lys | |
| XM_011535017.2:c.1998C>A | XP_011533319.1:p.Asn666Lys | |
| XM_011535018.2:c.1998C>A | XP_011533320.1:p.Asn666Lys | |
| XM_017020486.1:c.2307C>A | XP_016875975.1:p.Asn769Lys | |
| XM_017020487.1:c.1998C>A | XP_016875976.1:p.Asn666Lys | |
| XM_017020488.1:c.1644C>A | XP_016875977.1:p.Asn548Lys | |
| XM_017020489.1:c.1626C>A | XP_016875978.1:p.Asn542Lys | |
| NM_004119.3:c.2523C>A MANE Select | NP_004110.2:p.Asn841Lys | |
| NR_130706.2:n.2721C>A |