Linked Data
ClinVar Variation Id:
658296
ClinVar RCV Id:
RCV000815094
dbSNP Id:
rs1275349783
gnomAD v3:
5-132390692-T-G
gnomAD v4:
5-132390692-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390692T>G , CM000667.2:g.132390692T>G | GRCh38 |
| NC_000005.9:g.131726384T>G , CM000667.1:g.131726384T>G | GRCh37 |
| NC_000005.8:g.131754283T>G | NCBI36 |
| NG_008982.1:g.25984T>G | |
| NG_008982.2:g.25989T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.896T>G | ENSP00000388838.2:p.Met299Arg | |
| ENST00000435065.7:c.1127T>G | ENSP00000402760.2:p.Met376Arg | |
| ENST00000448810.6:c.1053-84T>G | ENSP00000401860.2:n.1053-84T>G | |
| ENST00000685543.1:n.1196T>G | ||
| ENST00000686757.1:c.*219T>G | ENSP00000510721.1:n.*219T>G | |
| ENST00000687740.1:n.3740T>G | ||
| ENST00000688151.1:n.2365T>G | ||
| ENST00000689271.1:c.902T>G | ENSP00000510797.1:p.Met301Arg | |
| ENST00000690900.1:c.*219T>G | ENSP00000510703.1:n.*219T>G | |
| ENST00000692212.1:n.2667T>G | ||
| ENST00000692355.1:c.308T>G | ||
| ENST00000692413.1:c.1037T>G | ENSP00000509374.1:p.Met346Arg | |
| ENST00000692825.1:c.1123T>G | ENSP00000509447.1:n.1123T>G | |
| ENST00000693308.1:c.1103T>G | ENSP00000509770.1:p.Met368Arg | |
| ENST00000693763.1:n.2215T>G | ||
| ENST00000245407.8:c.1055T>G MANE Select | ENSP00000245407.3:p.Met352Arg | |
| ENST00000245407.7:c.1055T>G | ENSP00000245407.3:p.Met352Arg | |
| ENST00000435065.6:c.1127T>G | ENSP00000402760.2:p.Met376Arg | |
| ENST00000447841.5:c.111+1671T>G | ||
| ENST00000448810.5:c.401-84T>G | ||
| ENST00000461013.5:n.8477T>G | ||
| ENST00000475308.1:n.1733T>G | ||
| ENST00000479605.5:n.158T>G | ||
| NM_001308122.1:c.1127T>G | NP_001295051.1:p.Met376Arg | |
| NM_003060.3:c.1055T>G | NP_003051.1:p.Met352Arg | |
| XM_011543590.1:c.437T>G | XP_011541892.1:p.Met146Arg | |
| XR_427718.1:n.1415T>G | ||
| XR_948290.1:n.1393+1671T>G | ||
| XR_948291.1:n.1409T>G | ||
| XM_011543590.2:c.437T>G | XP_011541892.1:p.Met146Arg | |
| XM_017009778.2:c.527T>G | XP_016865267.1:p.Met176Arg | |
| XR_001742215.1:n.1394-84T>G | ||
| XR_001742216.1:n.1413-84T>G | ||
| XR_427718.2:n.1415T>G | ||
| XR_948290.2:n.1393+1671T>G | ||
| XR_948291.2:n.1409T>G | ||
| NM_003060.4:c.1055T>G MANE Select | NP_003051.1:p.Met352Arg | |
| NM_001308122.2:c.1127T>G | NP_001295051.1:p.Met376Arg |