Linked Data
ClinVar Variation Id:
45306
ClinVar RCV Id:
RCV000038469
dbSNP Id:
rs17546153
ExAC:
12:57435052 A / G
gnomAD v2:
12-57435052-A-G
gnomAD v3:
12-57041268-A-G
gnomAD v4:
12-57041268-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57041268A>G , CM000674.2:g.57041268A>G | GRCh38 |
| NC_000012.11:g.57435052A>G , CM000674.1:g.57435052A>G | GRCh37 |
| NC_000012.10:g.55721319A>G | NCBI36 |
| NG_012104.1:g.13842T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300119.8:c.1185T>C MANE Select | ENSP00000300119.3:p.Phe395= | |
| ENST00000300119.7:c.1185T>C | ENSP00000300119.3:p.Phe395= | |
| ENST00000442789.6:c.1185T>C | ENSP00000393392.2:p.Phe395= | |
| ENST00000554234.5:c.699T>C | ENSP00000451033.1:p.Phe233= | |
| NM_001256041.1:c.1185T>C | NP_001242970.1:p.Phe395= | |
| NM_005379.3:c.1185T>C | NP_005370.1:p.Phe395= | |
| XM_011538373.1:c.1185T>C | XP_011536675.1:p.Phe395= | |
| XM_011538373.2:c.1185T>C | XP_011536675.1:p.Phe395= | |
| NM_005379.4:c.1185T>C MANE Select | NP_005370.1:p.Phe395= | |
| NM_001256041.2:c.1185T>C | NP_001242970.1:p.Phe395= |