Linked Data
ClinVar Variation Id:
36067
ClinVar RCV Id:
RCV000029728
RCV000035176
RCV000631909
RCV001119598
RCV001119599
RCV001119600
RCV001119601
RCV001121593
RCV002477020
dbSNP Id:
rs193922200
ExAC:
15:48779301 T / C
gnomAD v2:
15-48779301-T-C
gnomAD v3:
15-48487104-T-C
gnomAD v4:
15-48487104-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48487104T>C , CM000677.2:g.48487104T>C | GRCh38 |
| NC_000015.9:g.48779301T>C , CM000677.1:g.48779301T>C | GRCh37 |
| NC_000015.8:g.46566593T>C | NCBI36 |
| NG_008805.2:g.163685A>G , LRG_778:g.163685A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.3560A>G | ENSP00000453958.2:p.His1187Arg | |
| ENST00000674301.2:c.3560A>G | ENSP00000501333.2:p.His1187Arg | |
| ENST00000684448.1:n.2234A>G | ||
| ENST00000316623.10:c.3560A>G MANE Select | ENSP00000325527.5:p.His1187Arg | |
| ENST00000316623.9:c.3560A>G | ENSP00000325527.5:p.His1187Arg | |
| ENST00000537463.6:c.637-12454A>G | ENSP00000440294.2:n.637-12454A>G | |
| NM_000138.4:c.3560A>G , LRG_778t1:c.3560A>G | NP_000129.3:p.His1187Arg | |
| NM_000138.5:c.3560A>G MANE Select | NP_000129.3:p.His1187Arg |