Linked Data
ClinVar Variation Id:
2996371
ClinVar RCV Id:
RCV003856522
dbSNP Id:
rs769629103
ExAC:
16:9857021 G / A
gnomAD v2:
16-9857021-G-A
gnomAD v3:
16-9763164-G-A
gnomAD v4:
16-9763164-G-A
COSMIC:
COSM3513409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9763164G>A , CM000678.2:g.9763164G>A | GRCh38 |
| NC_000016.9:g.9857021G>A , CM000678.1:g.9857021G>A | GRCh37 |
| NC_000016.8:g.9764522G>A | NCBI36 |
| NG_011812.1:g.424591C>T | |
| NG_011812.2:g.424591C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.4380C>T MANE Select | ENSP00000332549.3:p.Ile1460= | |
| ENST00000535259.6:c.*191C>T | ENSP00000441572.3:n.*191C>T | |
| ENST00000636273.2:n.3630C>T | ||
| ENST00000674742.1:c.3909C>T | ENSP00000502200.1:p.Ile1303= | |
| ENST00000675398.1:c.*1750C>T | ENSP00000502752.1:n.*1750C>T | |
| ENST00000330684.3:c.4380C>T | ENSP00000332549.3:p.Ile1460= | |
| ENST00000396573.6:c.4380C>T | ENSP00000379818.2:p.Ile1460= | |
| ENST00000396575.6:c.3969C>T | ENSP00000379820.3:p.Ile1323= | |
| ENST00000461292.3:n.3676C>T | ||
| ENST00000535259.5:c.*191C>T | ENSP00000441572.2:n.*191C>T | |
| ENST00000562109.5:c.*191C>T | ENSP00000454998.1:n.*191C>T | |
| NM_000833.4:c.4380C>T | NP_000824.1:p.Ile1460= | |
| NM_001134407.2:c.4380C>T | NP_001127879.1:p.Ile1460= | |
| NM_001134408.2:c.*191C>T | NP_001127880.1:n.*191C>T | |
| XM_011522456.1:c.4221C>T | XP_011520758.1:p.Ile1407= | |
| XM_011522457.1:c.4122C>T | XP_011520759.1:p.Ile1374= | |
| XM_011522458.1:c.3909C>T | XP_011520760.1:p.Ile1303= | |
| XM_011522459.1:c.3909C>T | XP_011520761.1:p.Ile1303= | |
| XM_011522460.1:c.3909C>T | XP_011520762.1:p.Ile1303= | |
| XM_011522461.1:c.*191C>T | XP_011520763.1:n.*191C>T | |
| XM_011522458.3:c.3909C>T | XP_011520760.1:p.Ile1303= | |
| XM_011522461.3:c.*191C>T | XP_011520763.1:n.*191C>T | |
| XM_017023172.1:c.4536C>T | XP_016878661.1:p.Ile1512= | |
| XM_017023173.1:c.*191C>T | XP_016878662.1:n.*191C>T | |
| NM_001134407.3:c.4380C>T MANE Select | NP_001127879.1:p.Ile1460= | |
| NM_000833.5:c.4380C>T | NP_000824.1:p.Ile1460= |