Linked Data
ClinVar Variation Id:
1172201
ClinVar RCV Id:
RCV001525872
dbSNP Id:
rs2125439320
gnomAD v4:
3-30674219-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30674219A>G , CM000665.2:g.30674219A>G | GRCh38 |
| NC_000003.11:g.30715711A>G , CM000665.1:g.30715711A>G | GRCh37 |
| NC_000003.10:g.30690715A>G | NCBI36 |
| NG_007490.1:g.72718A>G , LRG_779:g.72718A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1369A>G MANE Select | ENSP00000295754.5:p.Met457Val | |
| ENST00000672866.1:n.2965A>G | ||
| ENST00000673203.1:n.247A>G | ||
| ENST00000295754.9:c.1369A>G | ENSP00000295754.5:p.Met457Val | |
| ENST00000359013.4:c.1444A>G | ENSP00000351905.4:p.Met482Val | |
| NM_001024847.2:c.1444A>G , LRG_779t1:c.1444A>G | NP_001020018.1:p.Met482Val | |
| NM_003242.5:c.1369A>G | NP_003233.4:p.Met457Val | |
| XM_011534043.1:c.1396A>G | XP_011532345.1:p.Met466Val | |
| XM_011534044.1:c.1321A>G | XP_011532346.1:p.Met441Val | |
| XM_011534045.1:c.1264A>G | XP_011532347.1:p.Met422Val | |
| XM_011534043.2:c.1396A>G | XP_011532345.1:p.Met466Val | |
| XM_011534045.3:c.1264A>G | XP_011532347.1:p.Met422Val | |
| XM_017007106.1:c.1264A>G | XP_016862595.1:p.Met422Val | |
| NM_003242.6:c.1369A>G MANE Select | NP_003233.4:p.Met457Val |