Linked Data
ClinVar Variation Id:
13947
ClinVar RCV Id:
RCV000014974
RCV000121988
RCV000198261
RCV000163885
RCV000490359
RCV000755684
RCV001106779
RCV001106778
RCV001107412
RCV003389668
dbSNP Id:
rs76397662
ExAC:
10:43597793 G / A
gnomAD v2:
10-43597793-G-A
gnomAD v3:
10-43102345-G-A
gnomAD v4:
10-43102345-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43102345G>A , CM000672.2:g.43102345G>A | GRCh38 |
| NC_000010.10:g.43597793G>A , CM000672.1:g.43597793G>A | GRCh37 |
| NC_000010.9:g.42917799G>A | NCBI36 |
| NG_007489.1:g.30277G>A , LRG_518:g.30277G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.341G>A | ENSP00000480088.2:p.Arg114His | |
| ENST00000683278.1:c.262G>A | ||
| ENST00000684216.1:c.243G>A | ||
| ENST00000340058.6:c.341G>A | ENSP00000344798.4:p.Arg114His | |
| ENST00000355710.8:c.341G>A MANE Select | ENSP00000347942.3:p.Arg114His | |
| ENST00000638465.1:c.283G>A | ||
| ENST00000640619.1:c.240-126G>A | ||
| ENST00000671844.1:c.341G>A | ENSP00000500541.1:p.Arg114His | |
| ENST00000672389.1:c.74-8862G>A | ENSP00000500252.1:n.74-8862G>A | |
| ENST00000340058.5:c.341G>A | ENSP00000344798.4:p.Arg114His | |
| ENST00000355710.7:c.341G>A | ENSP00000347942.3:p.Arg114His | |
| ENST00000498820.5:c.74-9754G>A | ENSP00000419080.1:n.74-9754G>A | |
| ENST00000615310.4:c.341G>A | ENSP00000480088.1:p.Arg114His | |
| NM_020630.4:c.341G>A , LRG_518t2:c.341G>A | NP_065681.1:p.Arg114His | |
| NM_020975.4:c.341G>A , LRG_518t1:c.341G>A | NP_066124.1:p.Arg114His | |
| XM_011540027.1:c.341G>A | XP_011538329.1:p.Arg114His | |
| NM_020630.5:c.341G>A | NP_065681.1:p.Arg114His | |
| NM_020975.5:c.341G>A | NP_066124.1:p.Arg114His | |
| NM_020975.6:c.341G>A MANE Select | NP_066124.1:p.Arg114His | |
| NM_020630.6:c.341G>A | NP_065681.1:p.Arg114His |