Linked Data
ClinVar Variation Id:
3008796
ClinVar RCV Id:
RCV003861923
dbSNP Id:
rs1359401060
gnomAD v2:
19-17954267-C-T
gnomAD v3:
19-17843458-C-T
gnomAD v4:
19-17843458-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17843458C>T , CM000681.2:g.17843458C>T | GRCh38 |
| NC_000019.9:g.17954267C>T , CM000681.1:g.17954267C>T | GRCh37 |
| NC_000019.8:g.17815267C>T | NCBI36 |
| NG_007273.1:g.9534G>A , LRG_77:g.9534G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.342G>A | ENSP00000513006.1:p.Lys114= | |
| ENST00000458235.7:c.342G>A MANE Select | ENSP00000391676.1:p.Lys114= | |
| ENST00000458235.5:c.342G>A | ENSP00000391676.1:p.Lys114= | |
| ENST00000526008.5:n.442G>A | ||
| ENST00000527031.5:n.432G>A | ||
| ENST00000527670.5:c.342G>A | ENSP00000432511.1:p.Lys114= | |
| ENST00000528293.1:n.357G>A | ||
| ENST00000534444.1:c.342G>A | ENSP00000436421.1:p.Lys114= | |
| NM_000215.3:c.342G>A , LRG_77t1:c.342G>A | NP_000206.2:p.Lys114= | |
| XM_005259896.2:c.471G>A | XP_005259953.1:p.Lys157= | |
| XM_006722745.2:c.342G>A | XP_006722808.1:p.Lys114= | |
| XM_011527990.1:c.471G>A | XP_011526292.1:p.Lys157= | |
| XM_011527991.1:c.471G>A | XP_011526293.1:p.Lys157= | |
| XR_430137.2:n.481G>A | ||
| XM_005259896.3:c.471G>A | XP_005259953.1:p.Lys157= | |
| XM_011527991.2:c.471G>A | XP_011526293.1:p.Lys157= | |
| NM_000215.4:c.342G>A MANE Select | NP_000206.2:p.Lys114= |