Linked Data
ClinVar Variation Id:
779015
ClinVar RCV Id:
RCV000959760
dbSNP Id:
rs59815620
ExAC:
16:48244996 C / T
gnomAD v2:
16-48244996-C-T
gnomAD v3:
16-48211085-C-T
gnomAD v4:
16-48211085-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.48211085C>T , CM000678.2:g.48211085C>T | GRCh38 |
| NC_000016.9:g.48244996C>T , CM000678.1:g.48244996C>T | GRCh37 |
| NC_000016.8:g.46802497C>T | NCBI36 |
| NG_011522.1:g.29093G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356608.7:c.1471G>A MANE Select | ENSP00000349017.2:p.Val491Ile | |
| ENST00000353782.9:c.1471G>A | ENSP00000311326.6:p.Val491Ile | |
| ENST00000356608.6:c.1471G>A | ENSP00000349017.2:p.Val491Ile | |
| ENST00000394747.5:c.1471G>A | ENSP00000378230.1:p.Val491Ile | |
| ENST00000394748.5:c.1471G>A | ENSP00000378231.1:p.Val491Ile | |
| ENST00000567385.5:n.1869G>A | ||
| NM_032583.3:c.1471G>A | NP_115972.2:p.Val491Ile | |
| NM_033151.3:c.1471G>A | NP_149163.2:p.Val491Ile | |
| NM_145186.2:c.1471G>A | NP_660187.1:p.Val491Ile | |
| XM_011523396.1:c.1273G>A | XP_011521698.1:p.Val425Ile | |
| XM_011523397.1:c.514G>A | XP_011521699.1:p.Val172Ile | |
| XM_011523397.2:c.514G>A | XP_011521699.1:p.Val172Ile | |
| XM_017023795.2:c.1471G>A | XP_016879284.1:p.Val491Ile | |
| XM_017023796.2:c.1471G>A | XP_016879285.1:p.Val491Ile | |
| XM_017023797.2:c.1471G>A | XP_016879286.1:p.Val491Ile | |
| XM_017023798.2:c.1471G>A | XP_016879287.1:p.Val491Ile | |
| XM_017023799.2:c.1471G>A | XP_016879288.1:p.Val491Ile | |
| XM_017023800.2:c.1471G>A | XP_016879289.1:p.Val491Ile | |
| XM_017023801.2:c.1363G>A | XP_016879290.1:p.Val455Ile | |
| XM_017023802.2:c.514G>A | XP_016879291.1:p.Val172Ile | |
| XM_017023803.1:c.1471G>A | XP_016879292.1:p.Val491Ile | |
| XM_024450475.1:c.514G>A | XP_024306243.1:p.Val172Ile | |
| XR_001752012.1:n.4149G>A | ||
| NM_001370496.1:c.1471G>A | NP_001357425.1:p.Val491Ile | |
| NM_001370497.1:c.1471G>A MANE Select | NP_001357426.1:p.Val491Ile | |
| NM_032583.4:c.1471G>A | NP_115972.2:p.Val491Ile | |
| NM_033151.4:c.1471G>A | NP_149163.2:p.Val491Ile | |
| NM_145186.3:c.1471G>A | NP_660187.1:p.Val491Ile |