Linked Data
dbSNP Id:
rs1390482142
gnomAD v2:
5-131728084-G-A
gnomAD v3:
5-132392392-G-A
gnomAD v4:
5-132392392-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132392392G>A , CM000667.2:g.132392392G>A | GRCh38 |
| NC_000005.9:g.131728084G>A , CM000667.1:g.131728084G>A | GRCh37 |
| NC_000005.8:g.131755983G>A | NCBI36 |
| NG_008982.1:g.27684G>A | |
| NG_008982.2:g.27689G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1109-41G>A | ENSP00000388838.2:n.1109-41G>A | |
| ENST00000435065.7:c.1340-41G>A | ENSP00000402760.2:n.1340-41G>A | |
| ENST00000448810.6:c.*120-41G>A | ENSP00000401860.2:n.*120-41G>A | |
| ENST00000685543.1:n.1409-41G>A | ||
| ENST00000686757.1:c.*432-41G>A | ENSP00000510721.1:n.*432-41G>A | |
| ENST00000687740.1:n.3953-41G>A | ||
| ENST00000688151.1:n.2578-41G>A | ||
| ENST00000689271.1:c.1115-41G>A | ENSP00000510797.1:n.1115-41G>A | |
| ENST00000690900.1:c.*432-41G>A | ENSP00000510703.1:n.*432-41G>A | |
| ENST00000692212.1:n.4367G>A | ||
| ENST00000692355.1:c.521-41G>A | ||
| ENST00000692413.1:c.1250-41G>A | ENSP00000509374.1:n.1250-41G>A | |
| ENST00000692825.1:c.1336-41G>A | ENSP00000509447.1:n.1336-41G>A | |
| ENST00000693308.1:c.1316-41G>A | ENSP00000509770.1:n.1316-41G>A | |
| ENST00000693763.1:n.2428-41G>A | ||
| ENST00000245407.8:c.1268-41G>A MANE Select | ENSP00000245407.3:n.1268-41G>A | |
| ENST00000245407.7:c.1268-41G>A | ENSP00000245407.3:n.1268-41G>A | |
| ENST00000435065.6:c.1340-41G>A | ENSP00000402760.2:n.1340-41G>A | |
| ENST00000447841.5:c.112-41G>A | ||
| ENST00000448810.5:c.530-41G>A | ||
| ENST00000461013.5:n.8690-41G>A | ||
| ENST00000475308.1:n.1946-41G>A | ||
| ENST00000479605.5:n.371-41G>A | ||
| NM_001308122.1:c.1340-41G>A | NP_001295051.1:n.1340-41G>A | |
| NM_003060.3:c.1268-41G>A | NP_003051.1:n.1268-41G>A | |
| XM_011543590.1:c.650-41G>A | XP_011541892.1:n.650-41G>A | |
| XR_427718.1:n.1628-41G>A | ||
| XR_948290.1:n.1394-41G>A | ||
| XR_948291.1:n.1622-41G>A | ||
| XM_011543590.2:c.650-41G>A | XP_011541892.1:n.650-41G>A | |
| XM_017009778.2:c.740-41G>A | XP_016865267.1:n.740-41G>A | |
| XR_001742215.1:n.1523-41G>A | ||
| XR_001742216.1:n.1542-41G>A | ||
| XR_427718.2:n.1628-41G>A | ||
| XR_948290.2:n.1394-41G>A | ||
| XR_948291.2:n.1622-41G>A | ||
| NM_003060.4:c.1268-41G>A MANE Select | NP_003051.1:n.1268-41G>A | |
| NM_001308122.2:c.1340-41G>A | NP_001295051.1:n.1340-41G>A |