Linked Data
ClinVar Variation Id:
190992
dbSNP Id:
rs114970039
ExAC:
1:198723433 T / C
gnomAD v2:
1-198723433-T-C
gnomAD v3:
1-198754304-T-C
gnomAD v4:
1-198754304-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.198754304T>C , CM000663.2:g.198754304T>C | GRCh38 |
| NC_000001.10:g.198723433T>C , CM000663.1:g.198723433T>C | GRCh37 |
| NC_000001.9:g.196990056T>C | NCBI36 |
| NG_007730.1:g.120209T>C | |
| NG_007730.2:g.120210T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000491302.2:n.2598T>C | ||
| ENST00000697631.1:c.3260T>C | ENSP00000513363.1:p.Leu1087Ser | |
| ENST00000697632.1:c.2507T>C | ENSP00000513364.1:p.Leu836Ser | |
| ENST00000697633.1:c.2152T>C | ||
| ENST00000697635.1:n.498T>C | ||
| ENST00000348564.11:c.3062T>C | ENSP00000306782.7:p.Leu1021Ser | |
| ENST00000442510.8:c.3545T>C MANE Select | ENSP00000411355.3:p.Leu1182Ser | |
| ENST00000646230.1:n.454T>C | ||
| ENST00000348564.10:c.3062T>C | ENSP00000306782.7:p.Leu1021Ser | |
| ENST00000442510.6:c.3545T>C | ENSP00000411355.3:p.Leu1182Ser | |
| NM_002838.4:c.3545T>C | NP_002829.3:p.Leu1182Ser | |
| NM_080921.3:c.3062T>C | NP_563578.2:p.Leu1021Ser | |
| XM_006711472.2:c.3401T>C | XP_006711535.1:p.Leu1134Ser | |
| XM_006711473.2:c.3347T>C | XP_006711536.1:p.Leu1116Ser | |
| XM_006711474.2:c.3203T>C | XP_006711537.1:p.Leu1068Ser | |
| XM_006711472.4:c.3401T>C | XP_006711535.1:p.Leu1134Ser | |
| XM_006711473.3:c.3347T>C | XP_006711536.1:p.Leu1116Ser | |
| XM_006711474.3:c.3203T>C | XP_006711537.1:p.Leu1068Ser | |
| NM_002838.5:c.3545T>C MANE Select | NP_002829.3:p.Leu1182Ser | |
| NM_080921.4:c.3062T>C | NP_563578.2:p.Leu1021Ser |