Linked Data
ClinVar Variation Id:
379230
ClinVar RCV Id:
RCV002469147
dbSNP Id:
rs145068530
ExAC:
5:131719870 A / G
gnomAD v2:
5-131719870-A-G
gnomAD v3:
5-132384178-A-G
gnomAD v4:
5-132384178-A-G
PubMed:
PMID:20574985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132384178A>G , CM000667.2:g.132384178A>G | GRCh38 |
| NC_000005.9:g.131719870A>G , CM000667.1:g.131719870A>G | GRCh37 |
| NC_000005.8:g.131747769A>G | NCBI36 |
| NG_008982.1:g.19470A>G | |
| NG_008982.2:g.19475A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.529A>G | ENSP00000388838.2:p.Met177Val | |
| ENST00000435065.7:c.601A>G | ENSP00000402760.2:p.Met201Val | |
| ENST00000448810.6:c.529A>G | ENSP00000401860.2:p.Met177Val | |
| ENST00000686757.1:c.529A>G | ENSP00000510721.1:p.Met177Val | |
| ENST00000687740.1:n.663A>G | ||
| ENST00000688151.1:n.1708A>G | ||
| ENST00000689271.1:c.529A>G | ENSP00000510797.1:p.Met177Val | |
| ENST00000690900.1:c.529A>G | ENSP00000510703.1:p.Met177Val | |
| ENST00000692355.1:c.81A>G | ||
| ENST00000692413.1:c.529A>G | ENSP00000509374.1:p.Met177Val | |
| ENST00000692825.1:c.597A>G | ENSP00000509447.1:n.597A>G | |
| ENST00000693308.1:c.529A>G | ENSP00000509770.1:p.Met177Val | |
| ENST00000693763.1:n.663A>G | ||
| ENST00000245407.8:c.529A>G MANE Select | ENSP00000245407.3:p.Met177Val | |
| ENST00000245407.7:c.529A>G | ENSP00000245407.3:p.Met177Val | |
| ENST00000415928.5:c.298A>G | ENSP00000388838.1:p.Met100Val | |
| ENST00000435065.6:c.601A>G | ENSP00000402760.2:p.Met201Val | |
| ENST00000437841.6:c.394-1150A>G | ENSP00000400553.1:n.394-1150A>G | |
| ENST00000461013.5:n.7951A>G | ||
| NM_001308122.1:c.601A>G | NP_001295051.1:p.Met201Val | |
| NM_003060.3:c.529A>G | NP_003051.1:p.Met177Val | |
| XR_427718.1:n.870A>G | ||
| XR_948290.1:n.870A>G | ||
| XR_948291.1:n.870A>G | ||
| XM_011543590.2:c.-103A>G | XP_011541892.1:n.-103A>G | |
| XM_017009778.2:c.1A>G | XP_016865267.1:p.Met1Val | |
| XR_001742215.1:n.870A>G | ||
| XR_001742216.1:n.870A>G | ||
| XR_427718.2:n.870A>G | ||
| XR_948290.2:n.870A>G | ||
| XR_948291.2:n.870A>G | ||
| NM_003060.4:c.529A>G MANE Select | NP_003051.1:p.Met177Val | |
| NM_001308122.2:c.601A>G | NP_001295051.1:p.Met201Val |