Linked Data
ClinVar Variation Id:
2772098
ClinVar RCV Id:
RCV003574579
MyVariant Identifiers:
chr1:g.21902231A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21575738A>C , CM000663.2:g.21575738A>C | GRCh38 |
| NC_000001.10:g.21902231A>C , CM000663.1:g.21902231A>C | GRCh37 |
| NC_000001.9:g.21774818A>C | NCBI36 |
| NG_008940.1:g.71374A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374840.8:c.1003A>C MANE Select | ENSP00000363973.3:p.Arg335= | |
| ENST00000374829.2:n.272A>C | ||
| ENST00000374830.2:c.78A>C | ||
| ENST00000374832.5:c.1003A>C | ENSP00000363965.1:p.Arg335= | |
| ENST00000374840.7:c.1003A>C | ENSP00000363973.3:p.Arg335= | |
| ENST00000539907.5:c.772A>C | ENSP00000437674.1:p.Arg258= | |
| ENST00000540617.5:c.838A>C | ENSP00000442672.1:p.Arg280= | |
| NM_000478.4:c.1003A>C | NP_000469.3:p.Arg335= | |
| NM_001127501.2:c.838A>C | NP_001120973.2:p.Arg280= | |
| NM_001177520.1:c.772A>C | NP_001170991.1:p.Arg258= | |
| XM_005245818.1:c.1003A>C | XP_005245875.1:p.Arg335= | |
| XM_006710546.1:c.1003A>C | XP_006710609.1:p.Arg335= | |
| NM_000478.5:c.1003A>C | NP_000469.3:p.Arg335= | |
| NM_001127501.3:c.838A>C | NP_001120973.2:p.Arg280= | |
| NM_001177520.2:c.772A>C | NP_001170991.1:p.Arg258= | |
| XM_006710546.3:c.1003A>C | XP_006710609.1:p.Arg335= | |
| XM_017000903.1:c.847A>C | XP_016856392.1:p.Arg283= | |
| NM_000478.6:c.1003A>C MANE Select | NP_000469.3:p.Arg335= | |
| NM_001127501.4:c.838A>C | NP_001120973.2:p.Arg280= | |
| NM_001177520.3:c.772A>C | NP_001170991.1:p.Arg258= | |
| NM_001369803.2:c.1003A>C | NP_001356732.1:p.Arg335= | |
| NM_001369804.2:c.1003A>C | NP_001356733.1:p.Arg335= | |
| NM_001369805.2:c.1003A>C | NP_001356734.1:p.Arg335= |