Linked Data
ClinVar Variation Id:
6312
ClinVar RCV Id:
RCV000006692
dbSNP Id:
rs2073711
ExAC:
15:65494212 A / G
gnomAD v2:
15-65494212-A-G
gnomAD v3:
15-65201874-A-G
gnomAD v4:
15-65201874-A-G
PubMed:
PMID:15864306
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65201874A>G , CM000677.2:g.65201874A>G | GRCh38 |
| NC_000015.9:g.65494212A>G , CM000677.1:g.65494212A>G | GRCh37 |
| NC_000015.8:g.63281265A>G | NCBI36 |
| NG_012214.1:g.14629T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261883.6:c.1184T>C MANE Select | ENSP00000261883.4:p.Ile395Thr | |
| ENST00000261883.5:c.1184T>C | ENSP00000261883.4:p.Ile395Thr | |
| NM_003613.3:c.1184T>C | NP_003604.3:p.Ile395Thr | |
| XM_017022678.2:c.1265T>C | XP_016878167.1:p.Ile422Thr | |
| XM_017022679.1:c.1112T>C | XP_016878168.1:p.Ile371Thr | |
| NM_003613.4:c.1184T>C MANE Select | NP_003604.4:p.Ile395Thr |