Linked Data
ClinVar Variation Id:
1478477
ClinVar RCV Id:
RCV001998627
dbSNP Id:
rs1023956374
gnomAD v3:
5-132393708-A-G
gnomAD v4:
5-132393708-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393708A>G , CM000667.2:g.132393708A>G | GRCh38 |
| NC_000005.9:g.131729400A>G , CM000667.1:g.131729400A>G | GRCh37 |
| NC_000005.8:g.131757299A>G | NCBI36 |
| NG_008982.1:g.29000A>G | |
| NG_008982.2:g.29005A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-477A>G | ENSP00000388838.2:n.1292-477A>G | |
| ENST00000435065.7:c.1555A>G | ENSP00000402760.2:p.Met519Val | |
| ENST00000448810.6:c.*335A>G | ENSP00000401860.2:n.*335A>G | |
| ENST00000685543.1:n.1624A>G | ||
| ENST00000686757.1:c.*647A>G | ENSP00000510721.1:n.*647A>G | |
| ENST00000686868.1:n.475A>G | ||
| ENST00000687740.1:n.4168A>G | ||
| ENST00000688151.1:n.2793A>G | ||
| ENST00000689271.1:c.1330A>G | ENSP00000510797.1:p.Met444Val | |
| ENST00000690900.1:c.*647A>G | ENSP00000510703.1:n.*647A>G | |
| ENST00000692212.1:n.4623A>G | ||
| ENST00000692355.1:c.736A>G | ||
| ENST00000692413.1:c.1465A>G | ENSP00000509374.1:p.Met489Val | |
| ENST00000692825.1:c.1551A>G | ENSP00000509447.1:n.1551A>G | |
| ENST00000693308.1:c.1531A>G | ENSP00000509770.1:p.Met511Val | |
| ENST00000693763.1:n.2643A>G | ||
| ENST00000245407.8:c.1483A>G MANE Select | ENSP00000245407.3:p.Met495Val | |
| ENST00000245407.7:c.1483A>G | ENSP00000245407.3:p.Met495Val | |
| ENST00000435065.6:c.1555A>G | ENSP00000402760.2:p.Met519Val | |
| ENST00000447841.5:c.327A>G | ||
| ENST00000448810.5:c.745A>G | ||
| ENST00000461013.5:n.8905A>G | ||
| ENST00000475308.1:n.2161A>G | ||
| NM_001308122.1:c.1555A>G | NP_001295051.1:p.Met519Val | |
| NM_003060.3:c.1483A>G | NP_003051.1:p.Met495Val | |
| XM_011543590.1:c.865A>G | XP_011541892.1:p.Met289Val | |
| XR_948290.1:n.1609A>G | ||
| XM_011543590.2:c.865A>G | XP_011541892.1:p.Met289Val | |
| XM_017009778.2:c.955A>G | XP_016865267.1:p.Met319Val | |
| XR_001742215.1:n.1738A>G | ||
| XR_001742216.1:n.1757A>G | ||
| XR_427718.2:n.1843A>G | ||
| XR_948290.2:n.1609A>G | ||
| XR_948291.2:n.1837A>G | ||
| NM_003060.4:c.1483A>G MANE Select | NP_003051.1:p.Met495Val | |
| NM_001308122.2:c.1555A>G | NP_001295051.1:p.Met519Val |