Linked Data
ClinVar Variation Id:
217695
ClinVar RCV Id:
RCV000201765
dbSNP Id:
rs863225219
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53610966C>A , CM000678.2:g.53610966C>A | GRCh38 |
| NC_000016.9:g.53644878C>A , CM000678.1:g.53644878C>A | GRCh37 |
| NC_000016.8:g.52202379C>A | NCBI36 |
| NG_008991.2:g.97894G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262135.9:c.3461+1G>T | ENSP00000262135.4:n.3461+1G>T | |
| ENST00000565343.2:n.4125+1G>T | ||
| ENST00000621565.5:c.3563+1G>T | ENSP00000480698.1:n.3563+1G>T | |
| ENST00000647211.2:c.3701+1G>T MANE Select | ENSP00000493946.1:n.3701+1G>T | |
| ENST00000680193.1:c.*461+1G>T | ENSP00000506379.1:n.*461+1G>T | |
| ENST00000681587.1:n.1473+1G>T | ||
| ENST00000262135.8:c.3461+1G>T | ENSP00000262135.4:n.3461+1G>T | |
| ENST00000379925.7:c.3701+1G>T | ENSP00000369257.3:n.3701+1G>T | |
| ENST00000563746.5:c.3599+1G>T | ENSP00000457889.1:n.3599+1G>T | |
| ENST00000564374.5:c.3563+1G>T | ENSP00000456534.1:n.3563+1G>T | |
| ENST00000621565.4:c.3563+1G>T | ENSP00000480698.1:n.3563+1G>T | |
| NM_001127897.1:c.3461+1G>T | NP_001121369.1:n.3461+1G>T | |
| NM_001127897.2:c.3461+1G>T | NP_001121369.1:n.3461+1G>T | |
| NM_001308334.1:c.3563+1G>T | NP_001295263.1:n.3563+1G>T | |
| NM_015272.2:c.3701+1G>T | NP_056087.2:n.3701+1G>T | |
| NM_015272.3:c.3701+1G>T | NP_056087.2:n.3701+1G>T | |
| XM_005255867.1:c.3599+1G>T | XP_005255924.1:n.3599+1G>T | |
| XM_005255868.1:c.3575+1G>T | XP_005255925.1:n.3575+1G>T | |
| XM_005255871.2:c.1808+1G>T | XP_005255928.1:n.1808+1G>T | |
| XM_011522968.1:c.3701+1G>T | XP_011521270.1:n.3701+1G>T | |
| XM_011522969.1:c.3575+1G>T | XP_011521271.1:n.3575+1G>T | |
| XM_011522974.1:c.1808+1G>T | XP_011521276.1:n.1808+1G>T | |
| XR_933260.1:n.3607+1G>T | ||
| NM_001127897.3:c.3461+1G>T | NP_001121369.1:n.3461+1G>T | |
| NM_001308334.2:c.3563+1G>T | NP_001295263.1:n.3563+1G>T | |
| NM_001330538.1:c.3599+1G>T | NP_001317467.1:n.3599+1G>T | |
| NM_015272.4:c.3701+1G>T | NP_056087.2:n.3701+1G>T | |
| XM_005255868.2:c.3575+1G>T | XP_005255925.1:n.3575+1G>T | |
| XM_017023094.2:c.3713+1G>T | XP_016878583.1:n.3713+1G>T | |
| XM_017023095.2:c.3473+1G>T | XP_016878584.1:n.3473+1G>T | |
| XM_017023096.2:c.3575+1G>T | XP_016878585.1:n.3575+1G>T | |
| XM_017023098.1:c.1946+1G>T | XP_016878587.1:n.1946+1G>T | |
| XM_017023099.1:c.1946+1G>T | XP_016878588.1:n.1946+1G>T | |
| XR_933260.3:n.3618+1G>T | ||
| NM_015272.5:c.3701+1G>T MANE Select | NP_056087.2:n.3701+1G>T | |
| NM_001127897.4:c.3461+1G>T | NP_001121369.1:n.3461+1G>T | |
| NM_001330538.2:c.3599+1G>T | NP_001317467.1:n.3599+1G>T | |
| NM_001308334.3:c.3563+1G>T | NP_001295263.1:n.3563+1G>T |