Linked Data
ClinVar Variation Id:
2814430
ClinVar RCV Id:
RCV003649808
dbSNP Id:
rs17337451
ExAC:
7:55268044 C / A
gnomAD v2:
7-55268044-C-A
gnomAD v4:
7-55200351-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55200351C>A , CM000669.2:g.55200351C>A | GRCh38 |
| NC_000007.13:g.55268044C>A , CM000669.1:g.55268044C>A | GRCh37 |
| NC_000007.12:g.55235538C>A | NCBI36 |
| NG_007726.3:g.186320C>A , LRG_304:g.186320C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2725C>A | ENSP00000413354.2:p.Arg909Ser | |
| ENST00000700145.1:c.900-4996C>A | ||
| ENST00000700146.1:n.628C>A | ||
| ENST00000275493.7:c.2884C>A MANE Select | ENSP00000275493.2:p.Arg962Ser | |
| ENST00000275493.6:c.2884C>A | ENSP00000275493.2:p.Arg962Ser | |
| ENST00000442591.5:c.*28+27423C>A | ENSP00000410031.1:n.*28+27423C>A | |
| ENST00000454757.6:c.2749C>A | ENSP00000395243.3:p.Arg917Ser | |
| ENST00000455089.5:c.2749C>A | ENSP00000415559.1:p.Arg917Ser | |
| ENST00000485503.1:n.214C>A | ||
| NM_005228.3:c.2884C>A , LRG_304t1:c.2884C>A | NP_005219.2:p.Arg962Ser | |
| NM_001346897.1:c.2749C>A | NP_001333826.1:p.Arg917Ser | |
| NM_001346898.1:c.2884C>A | NP_001333827.1:p.Arg962Ser | |
| NM_001346899.1:c.2749C>A | NP_001333828.1:p.Arg917Ser | |
| NM_001346900.1:c.2725C>A | NP_001333829.1:p.Arg909Ser | |
| NM_001346941.1:c.2083C>A | NP_001333870.1:p.Arg695Ser | |
| NM_005228.4:c.2884C>A | NP_005219.2:p.Arg962Ser | |
| NM_005228.5:c.2884C>A MANE Select | NP_005219.2:p.Arg962Ser | |
| NM_001346897.2:c.2749C>A | NP_001333826.1:p.Arg917Ser | |
| NM_001346898.2:c.2884C>A | NP_001333827.1:p.Arg962Ser | |
| NM_001346900.2:c.2725C>A | NP_001333829.1:p.Arg909Ser | |
| NM_001346941.2:c.2083C>A | NP_001333870.1:p.Arg695Ser | |
| NM_001346899.2:c.2749C>A | NP_001333828.1:p.Arg917Ser |