Linked Data
ClinVar Variation Id:
17053
ClinVar RCV Id:
RCV000018581
dbSNP Id:
rs587776846
gnomAD v4:
9-121023405-T-C
PubMed:
PMID:15778377
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.121023405T>C , CM000671.2:g.121023405T>C | GRCh38 |
| NC_000009.11:g.123785683T>C , CM000671.1:g.123785683T>C | GRCh37 |
| NC_000009.10:g.122825504T>C | NCBI36 |
| NG_007364.1:g.31872A>G , LRG_28:g.31872A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000466280.2:c.110A>G | ENSP00000513491.1:p.Lys37Arg | |
| ENST00000696279.1:c.1621A>G | ||
| ENST00000696280.1:n.1204A>G | ||
| ENST00000696281.1:c.1133A>G | ENSP00000512521.1:p.Lys378Arg | |
| ENST00000697922.1:c.*1105A>G | ENSP00000513478.1:n.*1105A>G | |
| ENST00000697923.1:n.1720A>G | ||
| ENST00000223642.3:c.1115A>G MANE Select | ENSP00000223642.1:p.Lys372Arg | |
| ENST00000223642.2:c.1115A>G | ENSP00000223642.1:p.Lys372Arg | |
| NM_001735.2:c.1115A>G , LRG_28t1:c.1115A>G | NP_001726.2:p.Lys372Arg | |
| XM_011518980.1:c.1130A>G | XP_011517282.1:p.Lys377Arg | |
| XM_011518981.1:c.1133A>G | XP_011517283.1:p.Lys378Arg | |
| NM_001317163.1:c.1133A>G | NP_001304092.1:p.Lys378Arg | |
| NM_001317164.1:c.1115A>G | NP_001304093.1:p.Lys372Arg | |
| NM_001317163.2:c.1133A>G | NP_001304092.1:p.Lys378Arg | |
| NM_001317164.2:c.1115A>G | NP_001304093.1:p.Lys372Arg | |
| NM_001735.3:c.1115A>G MANE Select | NP_001726.2:p.Lys372Arg |