Linked Data
ClinVar Variation Id:
60510
ClinVar RCV Id:
RCV000054408
dbSNP Id:
rs397509417
ExAC:
4:184622936 G / A
gnomAD v2:
4-184622936-G-A
gnomAD v3:
4-183701783-G-A
gnomAD v4:
4-183701783-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183701783G>A , CM000666.2:g.183701783G>A | GRCh38 |
| NC_000004.11:g.184622936G>A , CM000666.1:g.184622936G>A | GRCh37 |
| NC_000004.10:g.184859930G>A | NCBI36 |
| NG_033102.1:g.47517G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334690.11:c.2938G>A MANE Select | ENSP00000335371.6:p.Gly980Arg | |
| ENST00000334690.10:c.2938G>A | ENSP00000335371.6:p.Gly980Arg | |
| ENST00000357207.8:c.2938G>A | ENSP00000349738.4:p.Gly980Arg | |
| ENST00000505676.5:c.*1052G>A | ENSP00000422915.1:n.*1052G>A | |
| ENST00000506426.1:n.124G>A | ||
| ENST00000511955.5:n.931G>A | ||
| ENST00000512476.1:c.1756G>A | ENSP00000421004.1:p.Gly586Arg | |
| NM_021942.5:c.2938G>A | NP_068761.4:p.Gly980Arg | |
| NM_199053.2:c.2938G>A | NP_951008.1:p.Gly980Arg | |
| XM_011532180.1:c.2938G>A | XP_011530482.1:p.Gly980Arg | |
| XM_017008537.2:c.2938G>A | XP_016864026.1:p.Gly980Arg | |
| XM_024454179.1:c.2938G>A | XP_024309947.1:p.Gly980Arg | |
| XM_024454180.1:c.2938G>A | XP_024309948.1:p.Gly980Arg | |
| XM_024454181.1:c.1588G>A | XP_024309949.1:p.Gly530Arg | |
| XR_001741315.2:n.3130G>A | ||
| NM_021942.6:c.2938G>A MANE Select | NP_068761.4:p.Gly980Arg | |
| NM_199053.3:c.2938G>A | NP_951008.1:p.Gly980Arg |