Linked Data
ClinVar Variation Id:
167607
ClinVar RCV Id:
RCV000252274
RCV000475862
RCV001116966
RCV001116965
RCV001116967
RCV001704116
RCV002294053
dbSNP Id:
rs146902870
ExAC:
16:53656191 G / A
gnomAD v2:
16-53656191-G-A
gnomAD v3:
16-53622279-G-A
gnomAD v4:
16-53622279-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53622279G>A , CM000678.2:g.53622279G>A | GRCh38 |
| NC_000016.9:g.53656191G>A , CM000678.1:g.53656191G>A | GRCh37 |
| NC_000016.8:g.52213692G>A | NCBI36 |
| NG_008991.2:g.86581C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262135.9:c.3193-3071C>T | ENSP00000262135.4:n.3193-3071C>T | |
| ENST00000565343.2:n.3796C>T | ||
| ENST00000621565.5:c.3295-3071C>T | ENSP00000480698.1:n.3295-3071C>T | |
| ENST00000647211.2:c.3372C>T MANE Select | ENSP00000493946.1:p.Ser1124= | |
| ENST00000680193.1:c.*132C>T | ENSP00000506379.1:n.*132C>T | |
| ENST00000681587.1:n.1205-3071C>T | ||
| ENST00000262135.8:c.3193-3071C>T | ENSP00000262135.4:n.3193-3071C>T | |
| ENST00000379925.7:c.3372C>T | ENSP00000369257.3:p.Ser1124= | |
| ENST00000563746.5:c.3270C>T | ENSP00000457889.1:p.Ser1090= | |
| ENST00000564374.5:c.3295-3071C>T | ENSP00000456534.1:n.3295-3071C>T | |
| ENST00000621565.4:c.3295-3071C>T | ENSP00000480698.1:n.3295-3071C>T | |
| NM_001127897.1:c.3193-3071C>T | NP_001121369.1:n.3193-3071C>T | |
| NM_001127897.2:c.3193-3071C>T | NP_001121369.1:n.3193-3071C>T | |
| NM_001308334.1:c.3295-3071C>T | NP_001295263.1:n.3295-3071C>T | |
| NM_015272.2:c.3372C>T | NP_056087.2:p.Ser1124= | |
| NM_015272.3:c.3372C>T | NP_056087.2:p.Ser1124= | |
| XM_005255867.1:c.3270C>T | XP_005255924.1:p.Ser1090= | |
| XM_005255868.1:c.3307-3071C>T | XP_005255925.1:n.3307-3071C>T | |
| XM_005255871.2:c.1540-3071C>T | XP_005255928.1:n.1540-3071C>T | |
| XM_011522968.1:c.3372C>T | XP_011521270.1:p.Ser1124= | |
| XM_011522969.1:c.3307-3071C>T | XP_011521271.1:n.3307-3071C>T | |
| XM_011522974.1:c.1540-3071C>T | XP_011521276.1:n.1540-3071C>T | |
| XR_933260.1:n.3339-3071C>T | ||
| NM_001127897.3:c.3193-3071C>T | NP_001121369.1:n.3193-3071C>T | |
| NM_001308334.2:c.3295-3071C>T | NP_001295263.1:n.3295-3071C>T | |
| NM_001330538.1:c.3270C>T | NP_001317467.1:p.Ser1090= | |
| NM_015272.4:c.3372C>T | NP_056087.2:p.Ser1124= | |
| XM_005255868.2:c.3307-3071C>T | XP_005255925.1:n.3307-3071C>T | |
| XM_017023094.2:c.3384C>T | XP_016878583.1:p.Ser1128= | |
| XM_017023095.2:c.3205-3071C>T | XP_016878584.1:n.3205-3071C>T | |
| XM_017023096.2:c.3307-3071C>T | XP_016878585.1:n.3307-3071C>T | |
| XM_017023098.1:c.1617C>T | XP_016878587.1:p.Ser539= | |
| XM_017023099.1:c.1617C>T | XP_016878588.1:p.Ser539= | |
| XR_933260.3:n.3350-3071C>T | ||
| NM_015272.5:c.3372C>T MANE Select | NP_056087.2:p.Ser1124= | |
| NM_001127897.4:c.3193-3071C>T | NP_001121369.1:n.3193-3071C>T | |
| NM_001330538.2:c.3270C>T | NP_001317467.1:p.Ser1090= | |
| NM_001308334.3:c.3295-3071C>T | NP_001295263.1:n.3295-3071C>T |