Linked Data
ClinVar Variation Id:
356779
ClinVar RCV Id:
RCV000265544
RCV000305456
RCV000301917
RCV000356577
RCV000360203
RCV000403799
RCV001484194
RCV003422345
dbSNP Id:
rs139936445
ExAC:
6:42689821 G / A
gnomAD v2:
6-42689821-G-A
gnomAD v3:
6-42722083-G-A
gnomAD v4:
6-42722083-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722083G>A , CM000668.2:g.42722083G>A | GRCh38 |
| NC_000006.11:g.42689821G>A , CM000668.1:g.42689821G>A | GRCh37 |
| NC_000006.10:g.42797799G>A | NCBI36 |
| NG_009176.1:g.5538C>T | |
| NG_009176.2:g.5538C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.252C>T MANE Select | ENSP00000230381.5:p.Asp84= | |
| ENST00000230381.6:c.252C>T | ENSP00000230381.5:p.Asp84= | |
| NM_000322.4:c.252C>T | NP_000313.2:p.Asp84= | |
| XR_427834.2:n.907C>T | ||
| XR_926295.1:n.907C>T | ||
| XR_427834.4:n.957C>T | ||
| XR_926295.3:n.957C>T | ||
| NM_000322.5:c.252C>T MANE Select | NP_000313.2:p.Asp84= |