Linked Data
ClinVar Variation Id:
103365
ClinVar RCV Id:
RCV000089625
dbSNP Id:
rs199476281
ExAC:
16:3607044 G / T
gnomAD v2:
16-3607044-G-T
gnomAD v3:
16-3557043-G-T
gnomAD v4:
16-3557043-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3557043G>T , CM000678.2:g.3557043G>T | GRCh38 |
| NC_000016.9:g.3607044G>T , CM000678.1:g.3607044G>T | GRCh37 |
| NC_000016.8:g.3547045G>T | NCBI36 |
| NG_033123.1:g.25349C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359128.10:c.2100-49C>A MANE Select | ENSP00000352039.6:n.2100-49C>A | |
| ENST00000324659.12:c.2241-49C>A | ENSP00000323897.9:n.2241-49C>A | |
| ENST00000359128.9:c.2100-49C>A | ENSP00000352039.6:n.2100-49C>A | |
| ENST00000448023.6:c.2100-49C>A | ENSP00000414415.3:n.2100-49C>A | |
| ENST00000615877.4:c.2100-49C>A | ENSP00000482989.1:n.2100-49C>A | |
| NM_178844.3:c.2100-49C>A | NP_849172.2:n.2100-49C>A | |
| NR_075083.2:n.2585-49C>A | ||
| XM_011522416.1:c.2100-49C>A | XP_011520718.1:n.2100-49C>A | |
| XM_011522417.1:c.2100-49C>A | XP_011520719.1:n.2100-49C>A | |
| XM_011522418.1:c.2100-49C>A | XP_011520720.1:n.2100-49C>A | |
| XM_011522419.1:c.2100-49C>A | XP_011520721.1:n.2100-49C>A | |
| XM_011522420.1:c.2100-49C>A | XP_011520722.1:n.2100-49C>A | |
| XM_011522421.1:c.2100-49C>A | XP_011520723.1:n.2100-49C>A | |
| XM_011522422.1:c.2100-49C>A | XP_011520724.1:n.2100-49C>A | |
| XM_011522423.1:c.2100-49C>A | XP_011520725.1:n.2100-49C>A | |
| XR_243342.2:n.502-356G>T | ||
| XR_933023.1:n.502-356G>T | ||
| XR_933024.1:n.467-356G>T | ||
| XR_933025.1:n.412-356G>T | ||
| XM_017023027.2:c.2127-49C>A | XP_016878516.1:n.2127-49C>A | |
| XM_017023028.2:c.2127-49C>A | XP_016878517.1:n.2127-49C>A | |
| XM_017023029.2:c.2127-49C>A | XP_016878518.1:n.2127-49C>A | |
| XM_017023030.2:c.2127-49C>A | XP_016878519.1:n.2127-49C>A | |
| XM_017023031.2:c.2127-49C>A | XP_016878520.1:n.2127-49C>A | |
| XM_017023033.2:c.2127-49C>A | XP_016878522.1:n.2127-49C>A | |
| XM_017023034.2:c.2127-49C>A | XP_016878523.1:n.2127-49C>A | |
| XM_017023035.2:c.2127-49C>A | XP_016878524.1:n.2127-49C>A | |
| XM_017023036.2:c.2127-49C>A | XP_016878525.1:n.2127-49C>A | |
| XM_017023037.2:c.2022-49C>A | XP_016878526.1:n.2022-49C>A | |
| XM_017023038.2:c.1995-49C>A | XP_016878527.1:n.1995-49C>A | |
| XM_017023039.1:c.2127-49C>A | XP_016878528.1:n.2127-49C>A | |
| XR_001752059.2:n.2498-356G>T | ||
| XR_001752060.2:n.2498-356G>T | ||
| NM_178844.4:c.2100-49C>A MANE Select | NP_849172.2:n.2100-49C>A | |
| NR_075083.3:n.2584-49C>A |