Linked Data
ClinVar Variation Id:
341081
ClinVar RCV Id:
RCV000352355
dbSNP Id:
rs886057342
gnomAD v4:
22-29695001-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29695001C>A , CM000684.2:g.29695001C>A | GRCh38 |
| NC_000022.10:g.30090990C>A , CM000684.1:g.30090990C>A | GRCh37 |
| NC_000022.9:g.28420990C>A | NCBI36 |
| NG_009057.1:g.96446C>A , LRG_511:g.96446C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361166.10:c.*199C>A | ENSP00000354529.6:n.*199C>A | |
| ENST00000673312.2:c.*1481C>A | ENSP00000500186.2:n.*1481C>A | |
| ENST00000338641.10:c.*199C>A MANE Select | ENSP00000344666.5:n.*199C>A | |
| ENST00000361166.9:c.1405C>A | ENSP00000354529.5:n.1405C>A | |
| ENST00000672461.1:c.*259C>A | ENSP00000500919.1:n.*259C>A | |
| ENST00000672896.1:c.*259C>A | ENSP00000500117.1:n.*259C>A | |
| ENST00000673312.1:c.2006C>A | ENSP00000500186.1:n.2006C>A | |
| ENST00000338641.8:c.*199C>A | ENSP00000344666.4:n.*199C>A | |
| ENST00000361452.8:c.*259C>A | ENSP00000354897.4:n.*259C>A | |
| ENST00000413209.6:c.*199C>A | ENSP00000409921.2:n.*199C>A | |
| NM_000268.3:c.*199C>A , LRG_511t1:c.*199C>A | NP_000259.1:n.*199C>A | |
| NM_016418.5:c.*259C>A , LRG_511t2:c.*259C>A | NP_057502.2:n.*259C>A | |
| NM_181828.2:c.*259C>A | NP_861966.1:n.*259C>A | |
| NM_181829.2:c.*259C>A | NP_861967.1:n.*259C>A | |
| NM_181830.2:c.*259C>A | NP_861968.1:n.*259C>A | |
| NM_181832.2:c.*274C>A | NP_861970.1:n.*274C>A | |
| NM_181833.2:c.*199C>A | NP_861971.1:n.*199C>A | |
| NR_156186.1:n.2546C>A | ||
| XM_017028809.2:c.*199C>A | XP_016884298.1:n.*199C>A | |
| XM_017028810.1:c.*259C>A | XP_016884299.1:n.*259C>A | |
| NM_000268.4:c.*199C>A MANE Select | NP_000259.1:n.*199C>A | |
| NM_181828.3:c.*259C>A | NP_861966.1:n.*259C>A | |
| NM_181829.3:c.*259C>A | NP_861967.1:n.*259C>A | |
| NM_181830.3:c.*259C>A | NP_861968.1:n.*259C>A | |
| NM_181832.3:c.*274C>A | NP_861970.1:n.*274C>A | |
| NR_156186.2:n.2469C>A | ||
| NM_181833.3:c.*199C>A | NP_861971.1:n.*199C>A |