Linked Data
ClinVar Variation Id:
218621
ClinVar RCV Id:
RCV000203203
dbSNP Id:
rs182159312
ExAC:
6:166571924 G / A
gnomAD v2:
6-166571924-G-A
gnomAD v3:
6-166158436-G-A
gnomAD v4:
6-166158436-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.166158436G>A , CM000668.2:g.166158436G>A | GRCh38 |
| NC_000006.11:g.166571924G>A , CM000668.1:g.166571924G>A | GRCh37 |
| NC_000006.10:g.166491914G>A | NCBI36 |
| NG_012135.1:g.15208C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366876.7:c.1190C>T MANE Select | ENSP00000355841.3:p.Ser397Leu | |
| ENST00000296946.6:c.1187C>T | ENSP00000296946.2:p.Ser396Leu | |
| ENST00000366871.7:c.1013C>T | ENSP00000355836.3:p.Ser338Leu | |
| ENST00000366876.6:c.1190C>T | ENSP00000355841.2:p.Ser397Leu | |
| NM_001270484.1:c.1013C>T | NP_001257413.1:p.Ser338Leu | |
| NM_003181.3:c.1187C>T | NP_003172.1:p.Ser396Leu | |
| XM_011536080.1:c.1190C>T | XP_011534382.1:p.Ser397Leu | |
| XM_011536081.1:c.1013C>T | XP_011534383.1:p.Ser338Leu | |
| NM_001366285.1:c.1190C>T | NP_001353214.1:p.Ser397Leu | |
| NM_001366286.1:c.1190C>T | NP_001353215.1:p.Ser397Leu | |
| NM_001270484.2:c.1013C>T | NP_001257413.1:p.Ser338Leu | |
| NM_001366285.2:c.1190C>T MANE Select | NP_001353214.1:p.Ser397Leu | |
| NM_001366286.2:c.1190C>T | NP_001353215.1:p.Ser397Leu | |
| NM_003181.4:c.1187C>T | NP_003172.1:p.Ser396Leu |