Linked Data
ClinVar Variation Id:
462808
dbSNP Id:
rs149937418
ExAC:
1:151664995 G / A
gnomAD v2:
1-151664995-G-A
gnomAD v3:
1-151692519-G-A
gnomAD v4:
1-151692519-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151692519G>A , CM000663.2:g.151692519G>A | GRCh38 |
| NC_000001.10:g.151664995G>A , CM000663.1:g.151664995G>A | GRCh37 |
| NC_000001.9:g.149931619G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368838.2:c.921G>A | ||
| ENST00000368841.7:c.*995G>A | ENSP00000357834.2:n.*995G>A | |
| ENST00000368843.8:c.1324G>A | ENSP00000357836.3:p.Val442Ile | |
| ENST00000458013.7:c.1324G>A MANE Select | ENSP00000400333.2:p.Val442Ile | |
| ENST00000642349.1:c.1058G>A | ENSP00000494331.1:n.1058G>A | |
| ENST00000642376.1:c.961G>A | ENSP00000496645.1:p.Val321Ile | |
| ENST00000642479.1:c.*702G>A | ENSP00000496775.1:n.*702G>A | |
| ENST00000643179.1:n.1132G>A | ||
| ENST00000643937.1:n.1002G>A | ||
| ENST00000644970.1:n.1322G>A | ||
| ENST00000647328.1:n.1045G>A | ||
| ENST00000647551.1:n.4773G>A | ||
| ENST00000368838.1:c.1045G>A | ENSP00000357831.1:p.Val349Ile | |
| ENST00000368841.6:c.*995G>A | ENSP00000357834.2:n.*995G>A | |
| ENST00000368843.7:c.1324G>A | ENSP00000357836.3:p.Val442Ile | |
| ENST00000458013.6:c.1324G>A | ENSP00000400333.2:p.Val442Ile | |
| NM_030918.5:c.1324G>A | NP_112180.4:p.Val442Ile | |
| XM_005245509.1:c.1324G>A | XP_005245566.1:p.Val442Ile | |
| XM_005245510.2:c.1015G>A | XP_005245567.1:p.Val339Ile | |
| XM_005245511.3:c.766G>A | XP_005245568.1:p.Val256Ile | |
| XM_011510024.1:c.1021G>A | XP_011508326.1:p.Val341Ile | |
| XM_011510025.1:c.961G>A | XP_011508327.1:p.Val321Ile | |
| NM_001330723.1:c.1324G>A | NP_001317652.1:p.Val442Ile | |
| XM_005245510.3:c.1015G>A | XP_005245567.1:p.Val339Ile | |
| XM_005245511.4:c.766G>A | XP_005245568.1:p.Val256Ile | |
| XM_011510024.2:c.1021G>A | XP_011508326.1:p.Val341Ile | |
| XM_011510025.2:c.961G>A | XP_011508327.1:p.Val321Ile | |
| XM_017002417.1:c.961G>A | XP_016857906.1:p.Val321Ile | |
| XM_024450038.1:c.766G>A | XP_024305806.1:p.Val256Ile | |
| XM_024450039.1:c.766G>A | XP_024305807.1:p.Val256Ile | |
| NM_001330723.2:c.1324G>A MANE Select | NP_001317652.1:p.Val442Ile | |
| NM_030918.6:c.1324G>A | NP_112180.4:p.Val442Ile |