Linked Data
ClinVar Variation Id:
370325
ClinVar RCV Id:
RCV000411687
dbSNP Id:
rs1057516402
gnomAD v4:
5-132394183-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132394183A>G , CM000667.2:g.132394183A>G | GRCh38 |
| NC_000005.9:g.131729875A>G , CM000667.1:g.131729875A>G | GRCh37 |
| NC_000005.8:g.131757774A>G | NCBI36 |
| NG_008982.1:g.29475A>G | |
| NG_008982.2:g.29480A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1292-2A>G | ENSP00000388838.2:n.1292-2A>G | |
| ENST00000435065.7:c.1659-2A>G | ENSP00000402760.2:n.1659-2A>G | |
| ENST00000448810.6:c.*439-2A>G | ENSP00000401860.2:n.*439-2A>G | |
| ENST00000685543.1:n.1728-2A>G | ||
| ENST00000686757.1:c.*751-2A>G | ENSP00000510721.1:n.*751-2A>G | |
| ENST00000686868.1:n.579-2A>G | ||
| ENST00000687740.1:n.4272-2A>G | ||
| ENST00000688151.1:n.2897-2A>G | ||
| ENST00000689271.1:c.1434-2A>G | ENSP00000510797.1:n.1434-2A>G | |
| ENST00000690900.1:c.*751-2A>G | ENSP00000510703.1:n.*751-2A>G | |
| ENST00000692212.1:n.4727-2A>G | ||
| ENST00000692355.1:c.840-2A>G | ||
| ENST00000692413.1:c.1569-2A>G | ENSP00000509374.1:n.1569-2A>G | |
| ENST00000692825.1:c.1655-2A>G | ENSP00000509447.1:n.1655-2A>G | |
| ENST00000693308.1:c.1635-2A>G | ENSP00000509770.1:n.1635-2A>G | |
| ENST00000693763.1:n.2747-2A>G | ||
| ENST00000245407.8:c.1587-2A>G MANE Select | ENSP00000245407.3:n.1587-2A>G | |
| ENST00000245407.7:c.1587-2A>G | ENSP00000245407.3:n.1587-2A>G | |
| ENST00000435065.6:c.1659-2A>G | ENSP00000402760.2:n.1659-2A>G | |
| ENST00000447841.5:c.431-2A>G | ||
| ENST00000461013.5:n.9009-2A>G | ||
| ENST00000475308.1:n.2265-2A>G | ||
| NM_001308122.1:c.1659-2A>G | NP_001295051.1:n.1659-2A>G | |
| NM_003060.3:c.1587-2A>G | NP_003051.1:n.1587-2A>G | |
| XM_011543590.1:c.969-2A>G | XP_011541892.1:n.969-2A>G | |
| XR_948290.1:n.1713-2A>G | ||
| XM_011543590.2:c.969-2A>G | XP_011541892.1:n.969-2A>G | |
| XM_017009778.2:c.1059-2A>G | XP_016865267.1:n.1059-2A>G | |
| XR_001742215.1:n.1842-2A>G | ||
| XR_001742216.1:n.1861-2A>G | ||
| XR_427718.2:n.1947-2A>G | ||
| XR_948290.2:n.1713-2A>G | ||
| XR_948291.2:n.1941-2A>G | ||
| NM_003060.4:c.1587-2A>G MANE Select | NP_003051.1:n.1587-2A>G | |
| NM_001308122.2:c.1659-2A>G | NP_001295051.1:n.1659-2A>G |