Linked Data
ClinVar Variation Id:
2044136
ClinVar RCV Id:
RCV002900182
dbSNP Id:
rs776586105
ExAC:
14:51095044 T / G
gnomAD v2:
14-51095044-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50628326T>G , CM000676.2:g.50628326T>G | GRCh38 |
| NC_000014.8:g.51095044T>G , CM000676.1:g.51095044T>G | GRCh37 |
| NC_000014.7:g.50164794T>G | NCBI36 |
| NG_009028.1:g.100245T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.1415T>G | ENSP00000450989.2:p.Ile472Ser | |
| ENST00000556478.3:c.1415T>G | ENSP00000501428.2:p.Ile472Ser | |
| ENST00000682037.1:c.1415T>G | ENSP00000508289.1:p.Ile472Ser | |
| ENST00000682219.1:n.2753T>G | ||
| ENST00000683037.1:n.1336T>G | ||
| ENST00000683330.1:n.1749T>G | ||
| ENST00000358385.12:c.1415T>G MANE Select | ENSP00000351155.7:p.Ile472Ser | |
| ENST00000674288.1:c.*2707T>G | ENSP00000501522.1:n.*2707T>G | |
| ENST00000358385.10:c.1415T>G | ENSP00000351155.6:p.Ile472Ser | |
| ENST00000441560.6:c.1415T>G | ENSP00000413675.2:p.Ile472Ser | |
| ENST00000556067.1:c.161T>G | ENSP00000451100.1:p.Ile54Ser | |
| NM_001127713.1:c.1415T>G | NP_001121185.1:p.Ile472Ser | |
| NM_015915.4:c.1415T>G | NP_056999.2:p.Ile472Ser | |
| NM_181598.3:c.1415T>G | NP_853629.2:p.Ile472Ser | |
| NM_015915.5:c.1415T>G MANE Select | NP_056999.2:p.Ile472Ser | |
| NM_181598.4:c.1415T>G | NP_853629.2:p.Ile472Ser |