Linked Data
ClinVar Variation Id:
2819402
ClinVar RCV Id:
RCV003650896
dbSNP Id:
rs760551216
ExAC:
6:137187796 G / A
gnomAD v2:
6-137187796-G-A
gnomAD v4:
6-136866658-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136866658G>A , CM000668.2:g.136866658G>A | GRCh38 |
| NC_000006.11:g.137187796G>A , CM000668.1:g.137187796G>A | GRCh37 |
| NC_000006.10:g.137229489G>A | NCBI36 |
| NG_008462.1:g.49079G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.558G>A MANE Select | ENSP00000315680.3:p.Lys186= | |
| ENST00000541292.6:c.558G>A | ENSP00000441004.1:p.Lys186= | |
| ENST00000678002.1:c.246G>A | ||
| ENST00000678557.1:c.444G>A | ENSP00000502962.1:p.Lys148= | |
| ENST00000678593.1:c.563G>A | ENSP00000503841.1:n.563G>A | |
| ENST00000679286.1:c.438G>A | ENSP00000503168.1:p.Lys146= | |
| ENST00000318471.4:c.558G>A | ENSP00000315680.3:p.Lys186= | |
| ENST00000541292.5:c.558G>A | ENSP00000441004.1:p.Lys186= | |
| NM_000288.3:c.558G>A | NP_000279.1:p.Lys186= | |
| XM_005267019.3:c.444G>A | XP_005267076.1:p.Lys148= | |
| XM_006715502.1:c.340-3232G>A | XP_006715565.1:n.340-3232G>A | |
| XM_011535900.1:c.526+20477G>A | XP_011534202.1:n.526+20477G>A | |
| XM_005267019.4:c.444G>A | XP_005267076.1:p.Lys148= | |
| XM_006715502.2:c.340-3232G>A | XP_006715565.1:n.340-3232G>A | |
| XM_017010934.2:c.526+20477G>A | XP_016866423.1:n.526+20477G>A | |
| NM_000288.4:c.558G>A MANE Select | NP_000279.1:p.Lys186= |