Linked Data
ClinVar Variation Id:
4717
ClinVar RCV Id:
RCV000004982
dbSNP Id:
rs121908343
gnomAD v4:
22-50079918-G-T
PubMed:
PMID:11935341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50079918G>T , CM000684.2:g.50079918G>T | GRCh38 |
| NC_000022.10:g.50518347G>T , CM000684.1:g.50518347G>T | GRCh37 |
| NC_000022.9:g.48860474G>T | NCBI36 |
| NG_009162.1:g.11012C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311597.10:c.423C>A MANE Select | ENSP00000310375.6:p.Asn141Lys | |
| ENST00000311597.9:c.423C>A | ENSP00000310375.5:p.Asn141Lys | |
| ENST00000395876.6:c.423C>A | ENSP00000379216.2:p.Asn141Lys | |
| ENST00000442311.1:c.333C>A | ENSP00000401385.1:p.Asn111Lys | |
| NM_015166.3:c.423C>A | NP_055981.1:p.Asn141Lys | |
| NM_139202.2:c.423C>A | NP_631941.1:p.Asn141Lys | |
| XM_011530678.1:c.423C>A | XP_011528980.1:p.Asn141Lys | |
| XR_430476.2:n.818C>A | ||
| XM_011530678.2:c.423C>A | XP_011528980.1:p.Asn141Lys | |
| XM_017028671.1:c.423C>A | XP_016884160.1:p.Asn141Lys | |
| XR_001755180.2:n.928C>A | ||
| XR_001755181.2:n.696C>A | ||
| NM_001376472.1:c.423C>A | NP_001363401.1:p.Asn141Lys | |
| NM_001376473.1:c.423C>A | NP_001363402.1:p.Asn141Lys | |
| NM_001376474.1:c.423C>A | NP_001363403.1:p.Asn141Lys | |
| NM_001376475.1:c.423C>A | NP_001363404.1:p.Asn141Lys | |
| NM_001376476.1:c.423C>A | NP_001363405.1:p.Asn141Lys | |
| NM_001376477.1:c.423C>A | NP_001363406.1:p.Asn141Lys | |
| NM_001376478.1:c.423C>A | NP_001363407.1:p.Asn141Lys | |
| NM_001376479.1:c.423C>A | NP_001363408.1:p.Asn141Lys | |
| NM_001376480.1:c.333C>A | NP_001363409.1:p.Asn111Lys | |
| NM_001376481.1:c.321+426C>A | NP_001363410.1:n.321+426C>A | |
| NM_001376482.1:c.268-2416C>A | NP_001363411.1:n.268-2416C>A | |
| NM_001376483.1:c.268-2416C>A | NP_001363412.1:n.268-2416C>A | |
| NM_001376484.1:c.186C>A | NP_001363413.1:p.Asn62Lys | |
| NM_015166.4:c.423C>A MANE Select | NP_055981.1:p.Asn141Lys | |
| NM_139202.3:c.423C>A | NP_631941.1:p.Asn141Lys | |
| NR_164811.1:n.770C>A | ||
| NR_164812.1:n.554C>A | ||
| NR_164813.1:n.947C>A |