Linked Data
ClinVar Variation Id:
2815667
ClinVar RCV Id:
RCV003685542
dbSNP Id:
rs199905028
ExAC:
10:89544217 C / T
gnomAD v2:
10-89544217-C-T
gnomAD v3:
10-87784460-C-T
gnomAD v4:
10-87784460-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87784460C>T , CM000672.2:g.87784460C>T | GRCh38 |
| NC_000010.10:g.89544217C>T , CM000672.1:g.89544217C>T | GRCh37 |
| NC_000010.9:g.89534197C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680024.1:c.583+10G>A MANE Select | ENSP00000506333.1:n.583+10G>A | |
| ENST00000680388.1:c.583+10G>A | ENSP00000505894.1:n.583+10G>A | |
| ENST00000681308.1:c.*247+10G>A | ENSP00000506112.1:n.*247+10G>A | |
| ENST00000681602.1:c.583+10G>A | ENSP00000505593.1:n.583+10G>A | |
| ENST00000681629.1:c.583+10G>A | ENSP00000506152.1:n.583+10G>A | |
| ENST00000308448.11:c.583+10G>A | ENSP00000339017.4:n.583+10G>A | |
| ENST00000328142.3:c.583+10G>A | ENSP00000339016.2:n.583+10G>A | |
| NM_032810.2:c.583+10G>A | NP_116199.2:n.583+10G>A | |
| XM_005270251.2:c.583+10G>A | XP_005270308.1:n.583+10G>A | |
| XM_005270252.3:c.583+10G>A | XP_005270309.1:n.583+10G>A | |
| XM_005270253.1:c.583+10G>A | XP_005270310.1:n.583+10G>A | |
| XM_011540302.1:c.409+10G>A | XP_011538604.1:n.409+10G>A | |
| XM_011540303.1:c.583+10G>A | XP_011538605.1:n.583+10G>A | |
| XM_011540304.1:c.226+10G>A | XP_011538606.1:n.226+10G>A | |
| XR_945847.1:n.623+10G>A | ||
| XR_946172.1:n.411-12581C>T | ||
| NM_001321967.1:c.583+10G>A | NP_001308896.1:n.583+10G>A | |
| NM_001321968.1:c.583+10G>A | NP_001308897.1:n.583+10G>A | |
| NM_001321969.1:c.226+10G>A | NP_001308898.1:n.226+10G>A | |
| NM_032810.3:c.583+10G>A | NP_116199.2:n.583+10G>A | |
| NR_135914.1:n.661+10G>A | ||
| XM_005270252.5:c.583+10G>A | XP_005270309.1:n.583+10G>A | |
| XM_011540303.3:c.583+10G>A | XP_011538605.1:n.583+10G>A | |
| XM_017016847.2:c.583+10G>A | XP_016872336.1:n.583+10G>A | |
| XM_017016848.1:c.583+10G>A | XP_016872337.1:n.583+10G>A | |
| XM_017016849.1:c.226+10G>A | XP_016872338.1:n.226+10G>A | |
| XM_017016850.2:c.226+10G>A | XP_016872339.1:n.226+10G>A | |
| XM_017016851.2:c.583+10G>A | XP_016872340.1:n.583+10G>A | |
| XM_024448242.1:c.226+10G>A | XP_024304010.1:n.226+10G>A | |
| XR_001747245.2:n.625+10G>A | ||
| NM_001321967.2:c.583+10G>A MANE Select | NP_001308896.1:n.583+10G>A | |
| NM_001321968.2:c.583+10G>A | NP_001308897.1:n.583+10G>A | |
| NM_001321969.2:c.226+10G>A | NP_001308898.1:n.226+10G>A | |
| NM_032810.4:c.583+10G>A | NP_116199.2:n.583+10G>A | |
| NR_135914.2:n.656+10G>A |