Linked Data
ClinVar Variation Id:
241333
ClinVar RCV Id:
RCV000232595
RCV000412024
RCV000454826
RCV000409561
RCV001103996
RCV001103998
RCV001103999
RCV001103997
RCV001567894
RCV002256169
RCV004532955
dbSNP Id:
rs765463636
ExAC:
10:43602028 G / A
gnomAD v2:
10-43602028-G-A
gnomAD v3:
10-43106580-G-A
gnomAD v4:
10-43106580-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43106580G>A , CM000672.2:g.43106580G>A | GRCh38 |
| NC_000010.10:g.43602028G>A , CM000672.1:g.43602028G>A | GRCh37 |
| NC_000010.9:g.42922034G>A | NCBI36 |
| NG_007489.1:g.34512G>A , LRG_518:g.34512G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.867+1387G>A | ENSP00000480088.2:n.867+1387G>A | |
| ENST00000683007.1:n.637+9G>A | ||
| ENST00000340058.6:c.1063+9G>A | ENSP00000344798.4:n.1063+9G>A | |
| ENST00000355710.8:c.1063+9G>A MANE Select | ENSP00000347942.3:n.1063+9G>A | |
| ENST00000671844.1:c.625+3951G>A | ENSP00000500541.1:n.625+3951G>A | |
| ENST00000672389.1:c.74-4627G>A | ENSP00000500252.1:n.74-4627G>A | |
| ENST00000340058.5:c.1063+9G>A | ENSP00000344798.4:n.1063+9G>A | |
| ENST00000355710.7:c.1063+9G>A | ENSP00000347942.3:n.1063+9G>A | |
| ENST00000498820.5:c.74-5519G>A | ENSP00000419080.1:n.74-5519G>A | |
| ENST00000615310.4:c.1063+9G>A | ENSP00000480088.1:n.1063+9G>A | |
| NM_020630.4:c.1063+9G>A , LRG_518t2:c.1063+9G>A | NP_065681.1:n.1063+9G>A | |
| NM_020975.4:c.1063+9G>A , LRG_518t1:c.1063+9G>A | NP_066124.1:n.1063+9G>A | |
| XM_011540027.1:c.1063+9G>A | XP_011538329.1:n.1063+9G>A | |
| NM_001355216.1:c.301+9G>A | NP_001342145.1:n.301+9G>A | |
| NM_020630.5:c.1063+9G>A | NP_065681.1:n.1063+9G>A | |
| NM_020975.5:c.1063+9G>A | NP_066124.1:n.1063+9G>A | |
| NM_020975.6:c.1063+9G>A MANE Select | NP_066124.1:n.1063+9G>A | |
| NM_020630.6:c.1063+9G>A | NP_065681.1:n.1063+9G>A |