Linked Data
ClinVar Variation Id:
102958
ClinVar RCV Id:
RCV000089218
dbSNP Id:
rs199476289
gnomAD v2:
16-3592959-C-A
gnomAD v3:
16-3542959-C-A
gnomAD v4:
16-3542959-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3542959C>A , CM000678.2:g.3542959C>A | GRCh38 |
| NC_000016.9:g.3592959C>A , CM000678.1:g.3592959C>A | GRCh37 |
| NC_000016.8:g.3532960C>A | NCBI36 |
| NG_033123.1:g.39433G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359128.10:c.2940-184G>T MANE Select | ENSP00000352039.6:n.2940-184G>T | |
| ENST00000324659.12:c.3081-184G>T | ENSP00000323897.9:n.3081-184G>T | |
| ENST00000359128.9:c.2940-184G>T | ENSP00000352039.6:n.2940-184G>T | |
| ENST00000448023.6:c.2940-184G>T | ENSP00000414415.3:n.2940-184G>T | |
| ENST00000615877.4:c.*790-184G>T | ENSP00000482989.1:n.*790-184G>T | |
| NM_178844.3:c.2940-184G>T | NP_849172.2:n.2940-184G>T | |
| NR_075083.2:n.3561-184G>T | ||
| XM_011522416.1:c.2940-184G>T | XP_011520718.1:n.2940-184G>T | |
| XM_011522417.1:c.2940-184G>T | XP_011520719.1:n.2940-184G>T | |
| XM_011522418.1:c.2940-184G>T | XP_011520720.1:n.2940-184G>T | |
| XM_011522419.1:c.2940-184G>T | XP_011520721.1:n.2940-184G>T | |
| XM_011522420.1:c.2940-184G>T | XP_011520722.1:n.2940-184G>T | |
| XM_011522421.1:c.2940-184G>T | XP_011520723.1:n.2940-184G>T | |
| XM_011522422.1:c.2940-184G>T | XP_011520724.1:n.2940-184G>T | |
| XR_243342.2:n.386+290C>A | ||
| XR_933023.1:n.386+290C>A | ||
| XR_933024.1:n.351+290C>A | ||
| XR_933025.1:n.296+290C>A | ||
| XM_017023027.2:c.2967-184G>T | XP_016878516.1:n.2967-184G>T | |
| XM_017023028.2:c.2967-184G>T | XP_016878517.1:n.2967-184G>T | |
| XM_017023029.2:c.2967-184G>T | XP_016878518.1:n.2967-184G>T | |
| XM_017023030.2:c.2967-184G>T | XP_016878519.1:n.2967-184G>T | |
| XM_017023031.2:c.2967-184G>T | XP_016878520.1:n.2967-184G>T | |
| XM_017023033.2:c.2967-184G>T | XP_016878522.1:n.2967-184G>T | |
| XM_017023034.2:c.2967-184G>T | XP_016878523.1:n.2967-184G>T | |
| XM_017023035.2:c.2967-184G>T | XP_016878524.1:n.2967-184G>T | |
| XM_017023036.2:c.2967-184G>T | XP_016878525.1:n.2967-184G>T | |
| XM_017023037.2:c.2862-184G>T | XP_016878526.1:n.2862-184G>T | |
| XM_017023038.2:c.2835-184G>T | XP_016878527.1:n.2835-184G>T | |
| NM_178844.4:c.2940-184G>T MANE Select | NP_849172.2:n.2940-184G>T | |
| NR_075083.3:n.3560-184G>T |