Linked Data
ClinVar Variation Id:
350330
ClinVar RCV Id:
RCV000961645
dbSNP Id:
rs11956837
ExAC:
5:110454757 A / G
gnomAD v2:
5-110454757-A-G
gnomAD v3:
5-111119059-A-G
gnomAD v4:
5-111119059-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111119059A>G , CM000667.2:g.111119059A>G | GRCh38 |
| NC_000005.9:g.110454757A>G , CM000667.1:g.110454757A>G | GRCh37 |
| NC_000005.8:g.110482656A>G | NCBI36 |
| NG_008979.1:g.31888A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513710.4:c.1843A>G MANE Select | ENSP00000424628.3:p.Met615Val | |
| ENST00000506538.6:c.2011A>G | ENSP00000423067.2:p.Met671Val | |
| ENST00000513710.3:c.1843A>G | ENSP00000424628.3:p.Met615Val | |
| ENST00000612402.4:c.2011A>G | ENSP00000479950.1:p.Met671Val | |
| NM_139281.2:c.2011A>G | NP_644810.1:p.Met671Val | |
| XM_011543163.1:c.2011A>G | XP_011541465.1:p.Met671Val | |
| NM_139281.3:c.1843A>G MANE Select | NP_644810.2:p.Met615Val |