Linked Data
ClinVar Variation Id:
1615785
ClinVar RCV Id:
RCV002081713
dbSNP Id:
rs369979360
ExAC:
X:153581120 C / T
gnomAD v2:
X-153581120-C-T
gnomAD v3:
X-154352752-C-T
gnomAD v4:
X-154352752-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352752C>T , CM000685.2:g.154352752C>T | GRCh38 |
| NC_000023.10:g.153581120C>T , CM000685.1:g.153581120C>T | GRCh37 |
| NC_000023.9:g.153234314C>T | NCBI36 |
| NG_011506.1:g.26887G>A | |
| NG_011506.2:g.26887G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6355+20G>A | ENSP00000353467.4:n.6355+20G>A | |
| ENST00000369850.10:c.6379+20G>A MANE Select | ENSP00000358866.3:n.6379+20G>A | |
| ENST00000369856.8:c.6298+20G>A | ENSP00000358872.4:n.6298+20G>A | |
| ENST00000422373.6:c.3161-77G>A | ENSP00000416926.2:n.3161-77G>A | |
| ENST00000610817.5:c.6436+20G>A | ENSP00000480593.2:n.6436+20G>A | |
| ENST00000673639.2:c.280-4062G>A | ||
| ENST00000676696.1:c.6658+20G>A | ENSP00000503392.1:n.6658+20G>A | |
| ENST00000678304.1:n.1558+20G>A | ||
| ENST00000344736.8:c.6259+20G>A | ENSP00000358863.3:n.6259+20G>A | |
| ENST00000360319.8:c.6355+20G>A | ENSP00000353467.4:n.6355+20G>A | |
| ENST00000369850.7:c.6379+20G>A | ENSP00000358866.3:n.6379+20G>A | |
| ENST00000369856.7:c.6298+20G>A | ENSP00000358872.4:n.6298+20G>A | |
| ENST00000415241.1:c.581+20G>A | ||
| ENST00000420627.5:c.6335+20G>A | ENSP00000408921.1:n.6335+20G>A | |
| ENST00000422373.5:c.6355+20G>A | ENSP00000416926.1:n.6355+20G>A | |
| ENST00000444578.1:c.322+20G>A | ENSP00000397824.1:n.322+20G>A | |
| ENST00000466325.1:n.614G>A | ||
| ENST00000474358.5:n.12+20G>A | ||
| ENST00000490936.5:n.2368+20G>A | ||
| ENST00000498411.1:n.67+65G>A | ||
| ENST00000610817.4:c.5844+641G>A | ENSP00000480593.1:n.5844+641G>A | |
| NM_001110556.1:c.6379+20G>A | NP_001104026.1:n.6379+20G>A | |
| NM_001456.3:c.6355+20G>A | NP_001447.2:n.6355+20G>A | |
| XM_011531127.1:c.6283+20G>A | XP_011529429.1:n.6283+20G>A | |
| XM_011531128.1:c.6259+20G>A | XP_011529430.1:n.6259+20G>A | |
| XM_011531129.1:c.6205+20G>A | XP_011529431.1:n.6205+20G>A | |
| XM_011531130.1:c.6181+20G>A | XP_011529432.1:n.6181+20G>A | |
| XM_011531131.1:c.6178+20G>A | XP_011529433.1:n.6178+20G>A | |
| NM_001110556.2:c.6379+20G>A MANE Select | NP_001104026.1:n.6379+20G>A | |
| NM_001456.4:c.6355+20G>A | NP_001447.2:n.6355+20G>A |