Linked Data
ClinVar Variation Id:
103354
ClinVar RCV Id:
RCV000089614
dbSNP Id:
rs199475936
ExAC:
16:3613530 C / T
gnomAD v2:
16-3613530-C-T
gnomAD v3:
16-3563529-C-T
gnomAD v4:
16-3563529-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3563529C>T , CM000678.2:g.3563529C>T | GRCh38 |
| NC_000016.9:g.3613530C>T , CM000678.1:g.3613530C>T | GRCh37 |
| NC_000016.8:g.3553531C>T | NCBI36 |
| NG_033123.1:g.18863G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359128.10:c.1408G>A MANE Select | ENSP00000352039.6:p.Ala470Thr | |
| ENST00000324659.12:c.1549G>A | ENSP00000323897.9:p.Ala517Thr | |
| ENST00000359128.9:c.1408G>A | ENSP00000352039.6:p.Ala470Thr | |
| ENST00000448023.6:c.1408G>A | ENSP00000414415.3:p.Ala470Thr | |
| ENST00000615877.4:c.1408G>A | ENSP00000482989.1:p.Ala470Thr | |
| NM_178844.3:c.1408G>A | NP_849172.2:p.Ala470Thr | |
| NR_075083.2:n.1893G>A | ||
| XM_011522416.1:c.1408G>A | XP_011520718.1:p.Ala470Thr | |
| XM_011522417.1:c.1408G>A | XP_011520719.1:p.Ala470Thr | |
| XM_011522418.1:c.1408G>A | XP_011520720.1:p.Ala470Thr | |
| XM_011522419.1:c.1408G>A | XP_011520721.1:p.Ala470Thr | |
| XM_011522420.1:c.1408G>A | XP_011520722.1:p.Ala470Thr | |
| XM_011522421.1:c.1408G>A | XP_011520723.1:p.Ala470Thr | |
| XM_011522422.1:c.1408G>A | XP_011520724.1:p.Ala470Thr | |
| XM_011522423.1:c.1408G>A | XP_011520725.1:p.Ala470Thr | |
| XM_017023027.2:c.1435G>A | XP_016878516.1:p.Ala479Thr | |
| XM_017023028.2:c.1435G>A | XP_016878517.1:p.Ala479Thr | |
| XM_017023029.2:c.1435G>A | XP_016878518.1:p.Ala479Thr | |
| XM_017023030.2:c.1435G>A | XP_016878519.1:p.Ala479Thr | |
| XM_017023031.2:c.1435G>A | XP_016878520.1:p.Ala479Thr | |
| XM_017023033.2:c.1435G>A | XP_016878522.1:p.Ala479Thr | |
| XM_017023034.2:c.1435G>A | XP_016878523.1:p.Ala479Thr | |
| XM_017023035.2:c.1435G>A | XP_016878524.1:p.Ala479Thr | |
| XM_017023036.2:c.1435G>A | XP_016878525.1:p.Ala479Thr | |
| XM_017023037.2:c.1330G>A | XP_016878526.1:p.Ala444Thr | |
| XM_017023038.2:c.1303G>A | XP_016878527.1:p.Ala435Thr | |
| XM_017023039.1:c.1435G>A | XP_016878528.1:p.Ala479Thr | |
| NM_178844.4:c.1408G>A MANE Select | NP_849172.2:p.Ala470Thr | |
| NR_075083.3:n.1892G>A |