Linked Data
dbSNP Id:
rs10821415
gnomAD v2:
9-97713459-C-A
gnomAD v3:
9-94951177-C-A
gnomAD v4:
9-94951177-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94951177C>A , CM000671.2:g.94951177C>A | GRCh38 |
| NC_000009.11:g.97713459C>A , CM000671.1:g.97713459C>A | GRCh37 |
| NC_000009.10:g.96753280C>A | NCBI36 |
| NG_027833.1:g.229509C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375315.8:c.1662-4000C>A MANE Select | ENSP00000364464.2:n.1662-4000C>A | |
| ENST00000375315.7:c.1662-4000C>A | ENSP00000364464.2:n.1662-4000C>A | |
| ENST00000297979.9:c.1365-4000C>A | ENSP00000297979.5:n.1365-4000C>A | |
| ENST00000375315.6:c.1662-4000C>A | ENSP00000364464.2:n.1662-4000C>A | |
| ENST00000424143.5:c.834-4000C>A | ENSP00000402171.1:n.834-4000C>A | |
| ENST00000428313.5:c.1008-4000C>A | ENSP00000401854.1:n.1008-4000C>A | |
| ENST00000462125.5:n.328-4000C>A | ||
| ENST00000479161.5:n.384-4000C>A | ||
| NM_001193329.1:c.1662-4000C>A | NP_001180258.1:n.1662-4000C>A | |
| NM_032823.5:c.1365-4000C>A | NP_116212.3:n.1365-4000C>A | |
| XM_005252284.1:c.1365-4000C>A | XP_005252341.1:n.1365-4000C>A | |
| XM_006717306.1:c.1662-4000C>A | XP_006717369.1:n.1662-4000C>A | |
| XM_011519119.1:c.1662-4000C>A | XP_011517421.1:n.1662-4000C>A | |
| XM_011519120.1:c.1662-4000C>A | XP_011517422.1:n.1662-4000C>A | |
| XM_011519121.1:c.1662-4000C>A | XP_011517423.1:n.1662-4000C>A | |
| XM_011519122.1:c.1662-4000C>A | XP_011517424.1:n.1662-4000C>A | |
| XM_011519123.1:c.1662-4000C>A | XP_011517425.1:n.1662-4000C>A | |
| XM_011519124.1:c.1662-4000C>A | XP_011517426.1:n.1662-4000C>A | |
| XM_011519125.1:c.1662-4000C>A | XP_011517427.1:n.1662-4000C>A | |
| XM_011519126.1:c.1662-4000C>A | XP_011517428.1:n.1662-4000C>A | |
| XM_011519127.1:c.1662-4000C>A | XP_011517429.1:n.1662-4000C>A | |
| XM_011519128.1:c.771-4000C>A | XP_011517430.1:n.771-4000C>A | |
| XM_011519132.1:c.522-4000C>A | XP_011517434.1:n.522-4000C>A | |
| XR_929852.1:n.1945-4000C>A | ||
| XR_929853.1:n.1945-4000C>A | ||
| XR_929854.1:n.1945-4000C>A | ||
| XR_929855.1:n.1945-4000C>A | ||
| XR_929856.1:n.1945-4000C>A | ||
| XR_929857.1:n.1958C>A | ||
| XM_005252284.3:c.1365-4000C>A | XP_005252341.1:n.1365-4000C>A | |
| XM_006717306.2:c.1662-4000C>A | XP_006717369.1:n.1662-4000C>A | |
| XM_011519119.2:c.1662-4000C>A | XP_011517421.1:n.1662-4000C>A | |
| XM_011519120.3:c.1662-4000C>A | XP_011517422.1:n.1662-4000C>A | |
| XM_011519121.3:c.1662-4000C>A | XP_011517423.1:n.1662-4000C>A | |
| XM_011519122.3:c.1662-4000C>A | XP_011517424.1:n.1662-4000C>A | |
| XM_011519123.3:c.1662-4000C>A | XP_011517425.1:n.1662-4000C>A | |
| XM_011519127.2:c.1662-4000C>A | XP_011517429.1:n.1662-4000C>A | |
| XM_017015229.1:c.1662-4000C>A | XP_016870718.1:n.1662-4000C>A | |
| XM_017015230.2:c.1662-4000C>A | XP_016870719.1:n.1662-4000C>A | |
| XM_017015231.2:c.1365-4000C>A | XP_016870720.1:n.1365-4000C>A | |
| XM_017015232.2:c.1662-4000C>A | XP_016870721.1:n.1662-4000C>A | |
| XM_017015233.1:c.792-4000C>A | XP_016870722.1:n.792-4000C>A | |
| XM_017015234.2:c.771-4000C>A | XP_016870723.1:n.771-4000C>A | |
| XM_017015235.2:c.771-4000C>A | XP_016870724.1:n.771-4000C>A | |
| XM_017015236.2:c.474-4000C>A | XP_016870725.1:n.474-4000C>A | |
| XM_017015237.2:c.474-4000C>A | XP_016870726.1:n.474-4000C>A | |
| XR_001746402.2:n.1880-4000C>A | ||
| XR_001746403.2:n.1583-4000C>A | ||
| XR_001746404.2:n.1583-4000C>A | ||
| XR_929852.2:n.1880-4000C>A | ||
| XR_929853.2:n.1880-4000C>A | ||
| XR_929854.2:n.1880-4000C>A | ||
| XR_929855.2:n.1880-4000C>A | ||
| XR_929856.3:n.1880-4000C>A | ||
| XR_929857.2:n.1893C>A | ||
| NM_001193329.3:c.1662-4000C>A MANE Select | NP_001180258.1:n.1662-4000C>A | |
| NM_001386061.1:c.372-4000C>A | NP_001372990.1:n.372-4000C>A | |
| NM_001386062.2:c.1341-4000C>A | NP_001372991.1:n.1341-4000C>A | |
| NM_001386063.2:c.1662-4000C>A | NP_001372992.1:n.1662-4000C>A | |
| NM_001386066.1:c.1662-4000C>A | NP_001372995.1:n.1662-4000C>A | |
| NM_001386067.1:c.1365-28190C>A | NP_001372996.1:n.1365-28190C>A | |
| NM_001386068.1:c.1662-4000C>A | NP_001372997.1:n.1662-4000C>A | |
| NM_001386069.1:c.1365-4000C>A | NP_001372998.1:n.1365-4000C>A | |
| NM_001386070.1:c.1662-4000C>A | NP_001372999.1:n.1662-4000C>A | |
| NM_001386074.1:c.1662-4000C>A | NP_001373003.1:n.1662-4000C>A | |
| NM_001386075.1:c.1662-4000C>A | NP_001373004.1:n.1662-4000C>A | |
| NM_001386076.1:c.1662-4000C>A | NP_001373005.1:n.1662-4000C>A | |
| NM_032823.6:c.1365-4000C>A | NP_116212.3:n.1365-4000C>A | |
| NR_169862.1:n.1743-4000C>A | ||
| NR_169863.2:n.1553-4000C>A | ||
| NR_169864.1:n.1553-4000C>A | ||
| NR_169865.1:n.1683-4000C>A | ||
| NR_169866.1:n.1386-4000C>A | ||
| NR_169867.1:n.319-4000C>A |