Linked Data
ClinVar Variation Id:
402163
dbSNP Id:
rs370673772
ExAC:
19:39913402 G / A
gnomAD v2:
19-39913402-G-A
gnomAD v3:
19-39422762-G-A
gnomAD v4:
19-39422762-G-A
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39422762G>A , CM000681.2:g.39422762G>A | GRCh38 |
| NC_000019.9:g.39913402G>A , CM000681.1:g.39913402G>A | GRCh37 |
| NC_000019.8:g.44605242G>A | NCBI36 |
| NG_054904.1:g.15181G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425673.6:c.1708G>A MANE Select | ENSP00000392906.2:p.Gly570Arg | |
| ENST00000205135.8:c.1311G>A | ||
| ENST00000409797.6:c.1677+474G>A | ENSP00000386492.1:n.1677+474G>A | |
| ENST00000425673.5:c.1708G>A | ENSP00000392906.2:p.Gly570Arg | |
| ENST00000458508.6:c.1531G>A | ENSP00000408857.2:p.Gly511Arg | |
| ENST00000474449.1:n.654G>A | ||
| ENST00000596443.1:c.291+474G>A | ENSP00000468829.1:n.291+474G>A | |
| NM_022835.2:c.1708G>A | NP_073746.2:p.Gly570Arg | |
| XM_005259163.1:c.1708G>A | XP_005259220.1:p.Gly570Arg | |
| XM_006723332.1:c.1711G>A | XP_006723395.1:p.Gly571Arg | |
| XM_006723333.1:c.1708G>A | XP_006723396.1:p.Gly570Arg | |
| XM_006723334.1:c.1531G>A | XP_006723397.1:p.Gly511Arg | |
| XM_011527231.1:c.1711G>A | XP_011525533.1:p.Gly571Arg | |
| XM_011527232.1:c.1711G>A | XP_011525534.1:p.Gly571Arg | |
| XM_011527233.1:c.1672G>A | XP_011525535.1:p.Gly558Arg | |
| XM_011527234.1:c.1663G>A | XP_011525536.1:p.Gly555Arg | |
| NM_001351693.1:c.1531G>A | NP_001338622.1:p.Gly511Arg | |
| NM_001351694.1:c.1677+474G>A | NP_001338623.1:n.1677+474G>A | |
| XM_005259163.2:c.1708G>A | XP_005259220.1:p.Gly570Arg | |
| XM_006723334.2:c.1531G>A | XP_006723397.1:p.Gly511Arg | |
| XM_011527232.2:c.1711G>A | XP_011525534.1:p.Gly571Arg | |
| XM_017027150.1:c.1672G>A | XP_016882639.1:p.Gly558Arg | |
| XM_017027151.1:c.1663G>A | XP_016882640.1:p.Gly555Arg | |
| XR_002958344.1:n.2642G>A | ||
| NM_022835.3:c.1708G>A MANE Select | NP_073746.2:p.Gly570Arg | |
| NM_001351693.2:c.1531G>A | NP_001338622.1:p.Gly511Arg | |
| NM_001351694.2:c.1677+474G>A | NP_001338623.1:n.1677+474G>A |