Linked Data
dbSNP Id:
rs1160695697
gnomAD v2:
5-131722674-G-A
gnomAD v3:
5-132386982-G-A
gnomAD v4:
5-132386982-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132386982G>A , CM000667.2:g.132386982G>A | GRCh38 |
| NC_000005.9:g.131722674G>A , CM000667.1:g.131722674G>A | GRCh37 |
| NC_000005.8:g.131750573G>A | NCBI36 |
| NG_008982.1:g.22274G>A | |
| NG_008982.2:g.22279G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.666-43G>A | ENSP00000388838.2:n.666-43G>A | |
| ENST00000435065.7:c.897-43G>A | ENSP00000402760.2:n.897-43G>A | |
| ENST00000448810.6:c.825-43G>A | ENSP00000401860.2:n.825-43G>A | |
| ENST00000686757.1:c.844-43G>A | ENSP00000510721.1:n.844-43G>A | |
| ENST00000687740.1:n.3467G>A | ||
| ENST00000688151.1:n.2135-43G>A | ||
| ENST00000689271.1:c.672-43G>A | ENSP00000510797.1:n.672-43G>A | |
| ENST00000690900.1:c.796-43G>A | ENSP00000510703.1:n.796-43G>A | |
| ENST00000692212.1:n.769-43G>A | ||
| ENST00000692355.1:c.205-1939G>A | ||
| ENST00000692413.1:c.844-80G>A | ENSP00000509374.1:n.844-80G>A | |
| ENST00000692825.1:c.893-43G>A | ENSP00000509447.1:n.893-43G>A | |
| ENST00000693308.1:c.838-8G>A | ENSP00000509770.1:n.838-8G>A | |
| ENST00000693763.1:n.1985-43G>A | ||
| ENST00000245407.8:c.825-43G>A MANE Select | ENSP00000245407.3:n.825-43G>A | |
| ENST00000245407.7:c.825-43G>A | ENSP00000245407.3:n.825-43G>A | |
| ENST00000415928.5:c.594-43G>A | ENSP00000388838.1:n.594-43G>A | |
| ENST00000435065.6:c.897-43G>A | ENSP00000402760.2:n.897-43G>A | |
| ENST00000437841.6:c.*140-43G>A | ENSP00000400553.1:n.*140-43G>A | |
| ENST00000448810.5:c.173-43G>A | ||
| ENST00000461013.5:n.8247-43G>A | ||
| NM_001308122.1:c.897-43G>A | NP_001295051.1:n.897-43G>A | |
| NM_003060.3:c.825-43G>A | NP_003051.1:n.825-43G>A | |
| XM_011543590.1:c.207-43G>A | XP_011541892.1:n.207-43G>A | |
| XR_427718.1:n.1185-43G>A | ||
| XR_948290.1:n.1166-43G>A | ||
| XR_948291.1:n.1179-43G>A | ||
| XM_011543590.2:c.207-43G>A | XP_011541892.1:n.207-43G>A | |
| XM_017009778.2:c.297-43G>A | XP_016865267.1:n.297-43G>A | |
| XR_001742215.1:n.1166-43G>A | ||
| XR_001742216.1:n.1185-43G>A | ||
| XR_427718.2:n.1185-43G>A | ||
| XR_948290.2:n.1166-43G>A | ||
| XR_948291.2:n.1179-43G>A | ||
| NM_003060.4:c.825-43G>A MANE Select | NP_003051.1:n.825-43G>A | |
| NM_001308122.2:c.897-43G>A | NP_001295051.1:n.897-43G>A |