Linked Data
ClinVar Variation Id:
354004
ClinVar RCV Id:
RCV000281997
dbSNP Id:
rs549186090
gnomAD v3:
5-60873890-A-C
gnomAD v4:
5-60873890-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60873890A>C , CM000667.2:g.60873890A>C | GRCh38 |
| NC_000005.9:g.60169717A>C , CM000667.1:g.60169717A>C | GRCh37 |
| NC_000005.8:g.60205474A>C | NCBI36 |
| NG_009289.1:g.76189T>G , LRG_466:g.76189T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439176.6:c.*725T>G | ENSP00000408344.2:n.*725T>G | |
| ENST00000647431.2:c.2017T>G | ENSP00000494726.2:n.2017T>G | |
| ENST00000675042.2:c.*725T>G | ENSP00000502082.2:n.*725T>G | |
| ENST00000682217.1:c.*725T>G | ENSP00000507570.1:n.*725T>G | |
| ENST00000682375.1:c.*1746T>G | ENSP00000507551.1:n.*1746T>G | |
| ENST00000683052.1:c.1718T>G | ENSP00000507072.1:n.1718T>G | |
| ENST00000683216.1:n.5553T>G | ||
| ENST00000265038.10:c.*725T>G | ENSP00000265038.6:n.*725T>G | |
| ENST00000643034.1:c.*1808T>G | ENSP00000496080.1:n.*1808T>G | |
| ENST00000643708.1:c.*1746T>G | ENSP00000494199.1:n.*1746T>G | |
| ENST00000647431.1:c.1968T>G | ||
| ENST00000675378.1:c.*917T>G | ENSP00000502535.1:n.*917T>G | |
| ENST00000676185.1:c.*725T>G MANE Select | ENSP00000501614.1:n.*725T>G | |
| ENST00000265038.9:c.*725T>G | ENSP00000265038.5:n.*725T>G | |
| ENST00000381118.7:c.*1960T>G | ENSP00000370510.3:n.*1960T>G | |
| ENST00000462279.5:n.3368T>G | ||
| NM_000082.3:c.*725T>G , LRG_466t1:c.*725T>G | NP_000073.1:n.*725T>G | |
| NM_001007233.2:c.*725T>G | NP_001007234.1:n.*725T>G | |
| NM_001290285.1:c.*725T>G | NP_001277214.1:n.*725T>G | |
| NM_000082.4:c.*725T>G MANE Select | NP_000073.1:n.*725T>G | |
| NM_001007233.3:c.*725T>G | NP_001007234.1:n.*725T>G | |
| NM_001290285.2:c.*725T>G | NP_001277214.1:n.*725T>G |