Linked Data
ClinVar Variation Id:
17312
ClinVar RCV Id:
RCV000018853
RCV000029586
RCV000480634
RCV000490676
RCV000692051
RCV000763413
RCV004549377
dbSNP Id:
rs72645357
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50196163C>T , CM000679.2:g.50196163C>T | GRCh38 |
| NC_000017.10:g.48273524C>T , CM000679.1:g.48273524C>T | GRCh37 |
| NC_000017.9:g.45628523C>T | NCBI36 |
| NG_007400.1:g.10477G>A , LRG_1:g.10477G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.994G>A MANE Select | ENSP00000225964.6:p.Gly332Arg | |
| ENST00000225964.9:c.994G>A | ENSP00000225964.5:p.Gly332Arg | |
| ENST00000485870.1:n.319G>A | ||
| NM_000088.3:c.994G>A , LRG_1t1:c.994G>A | NP_000079.2:p.Gly332Arg | |
| XM_005257058.3:c.994G>A | XP_005257115.2:p.Gly332Arg | |
| XM_005257059.3:c.957+151G>A | XP_005257116.2:n.957+151G>A | |
| XM_011524341.1:c.957+151G>A | XP_011522643.1:n.957+151G>A | |
| XM_005257058.4:c.994G>A | XP_005257115.2:p.Gly332Arg | |
| XM_005257059.4:c.957+151G>A | XP_005257116.2:n.957+151G>A | |
| NM_000088.4:c.994G>A MANE Select | NP_000079.2:p.Gly332Arg |