Linked Data
ClinVar Variation Id:
950947
ClinVar RCV Id:
RCV001222769
dbSNP Id:
rs2037744218
gnomAD v4:
16-56336792-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56336792G>A , CM000678.2:g.56336792G>A | GRCh38 |
| NC_000016.9:g.56370704G>A , CM000678.1:g.56370704G>A | GRCh37 |
| NC_000016.8:g.54928205G>A | NCBI36 |
| NG_042800.1:g.150454G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.655G>A | ENSP00000262494.7:p.Val219Ile | |
| ENST00000262493.12:c.655G>A MANE Select | ENSP00000262493.6:p.Val219Ile | |
| ENST00000262494.12:c.655G>A | ENSP00000262494.7:p.Val219Ile | |
| ENST00000562316.6:c.322G>A | ENSP00000457238.2:p.Val108Ile | |
| ENST00000568375.2:c.47G>A | ||
| ENST00000638185.1:n.870G>A | ||
| ENST00000638210.1:n.955G>A | ||
| ENST00000638705.1:c.655G>A | ENSP00000491223.1:p.Val219Ile | |
| ENST00000638836.1:n.565G>A | ||
| ENST00000639055.1:n.1376G>A | ||
| ENST00000639251.1:n.556G>A | ||
| ENST00000639268.1:c.290G>A | ||
| ENST00000639341.1:c.180G>A | ||
| ENST00000639770.1:c.693G>A | ENSP00000491999.1:n.693G>A | |
| ENST00000640390.1:n.585G>A | ||
| ENST00000640469.1:c.19G>A | ENSP00000491875.1:p.Val7Ile | |
| ENST00000640560.1:n.431G>A | ||
| ENST00000640893.1:c.*53G>A | ENSP00000492677.1:n.*53G>A | |
| ENST00000262493.10:c.655G>A | ENSP00000262493.6:p.Val219Ile | |
| ENST00000262494.11:c.655G>A | ENSP00000262494.7:p.Val219Ile | |
| ENST00000568375.1:n.47G>A | ||
| NM_020988.2:c.655G>A | NP_066268.1:p.Val219Ile | |
| NM_138736.2:c.655G>A | NP_620073.2:p.Val219Ile | |
| XM_011523003.1:c.529G>A | XP_011521305.1:p.Val177Ile | |
| XM_011523003.3:c.529G>A | XP_011521305.1:p.Val177Ile | |
| NM_020988.3:c.655G>A MANE Select | NP_066268.1:p.Val219Ile | |
| NM_138736.3:c.655G>A | NP_620073.2:p.Val219Ile |