Linked Data
ClinVar Variation Id:
500853
dbSNP Id:
rs191969418
ExAC:
6:137191089 G / A
gnomAD v2:
6-137191089-G-A
gnomAD v3:
6-136869951-G-A
gnomAD v4:
6-136869951-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136869951G>A , CM000668.2:g.136869951G>A | GRCh38 |
| NC_000006.11:g.137191089G>A , CM000668.1:g.137191089G>A | GRCh37 |
| NC_000006.10:g.137232782G>A | NCBI36 |
| NG_008462.1:g.52372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.695G>A MANE Select | ENSP00000315680.3:p.Arg232Gln | |
| ENST00000541292.6:c.695G>A | ENSP00000441004.1:p.Arg232Gln | |
| ENST00000678002.1:c.383G>A | ||
| ENST00000678557.1:c.581G>A | ENSP00000502962.1:p.Arg194Gln | |
| ENST00000678593.1:c.700G>A | ENSP00000503841.1:n.700G>A | |
| ENST00000679286.1:c.575G>A | ENSP00000503168.1:p.Arg192Gln | |
| ENST00000318471.4:c.695G>A | ENSP00000315680.3:p.Arg232Gln | |
| ENST00000541292.5:c.695G>A | ENSP00000441004.1:p.Arg232Gln | |
| NM_000288.3:c.695G>A | NP_000279.1:p.Arg232Gln | |
| XM_005267019.3:c.581G>A | XP_005267076.1:p.Arg194Gln | |
| XM_006715502.1:c.401G>A | XP_006715565.1:p.Arg134Gln | |
| XM_011535900.1:c.526+23770G>A | XP_011534202.1:n.526+23770G>A | |
| XM_005267019.4:c.581G>A | XP_005267076.1:p.Arg194Gln | |
| XM_006715502.2:c.401G>A | XP_006715565.1:p.Arg134Gln | |
| XM_017010934.2:c.526+23770G>A | XP_016866423.1:n.526+23770G>A | |
| NM_000288.4:c.695G>A MANE Select | NP_000279.1:p.Arg232Gln |