Linked Data
ClinVar Variation Id:
254661
dbSNP Id:
rs886038200
gnomAD v2:
17-6510529-T-A
gnomAD v4:
17-6607209-T-A
PubMed:
PMID:26643951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6607209T>A , CM000679.2:g.6607209T>A | GRCh38 |
| NC_000017.10:g.6510529T>A , CM000679.1:g.6510529T>A | GRCh37 |
| NC_000017.9:g.6451253T>A | NCBI36 |
| NG_054885.1:g.38719A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634965.3:c.*2841A>T | ENSP00000499350.1:n.*2841A>T | |
| ENST00000361413.8:c.1891A>T MANE Select | ENSP00000355250.3:p.Lys631Ter | |
| ENST00000361413.7:c.1891A>T | ENSP00000355250.3:p.Lys631Ter | |
| ENST00000542826.6:c.466A>T | ||
| ENST00000570790.5:c.*1037A>T | ENSP00000460816.1:n.*1037A>T | |
| ENST00000572370.5:c.994A>T | ENSP00000460050.1:p.Lys332Ter | |
| NM_014804.2:c.1891A>T | NP_055619.2:p.Lys631Ter | |
| XM_006721611.1:c.1891A>T | XP_006721674.1:p.Lys631Ter | |
| XM_006721612.1:c.994A>T | XP_006721675.1:p.Lys332Ter | |
| XM_011524090.1:c.1891A>T | XP_011522392.1:p.Lys631Ter | |
| XM_011524091.1:c.1891A>T | XP_011522393.1:p.Lys631Ter | |
| XM_011524092.1:c.1891A>T | XP_011522394.1:p.Lys631Ter | |
| XM_011524093.1:c.1891A>T | XP_011522395.1:p.Lys631Ter | |
| XM_011524094.1:c.1891A>T | XP_011522396.1:p.Lys631Ter | |
| XM_011524095.1:c.1891A>T | XP_011522397.1:p.Lys631Ter | |
| XM_011524096.1:c.1891A>T | XP_011522398.1:p.Lys631Ter | |
| XM_011524097.1:c.1891A>T | XP_011522399.1:p.Lys631Ter | |
| XM_011524098.1:c.994A>T | XP_011522400.1:p.Lys332Ter | |
| XM_011524099.1:c.994A>T | XP_011522401.1:p.Lys332Ter | |
| XM_011524100.1:c.994A>T | XP_011522402.1:p.Lys332Ter | |
| XR_934126.1:n.2250A>T | ||
| NM_001351225.1:c.994A>T | NP_001338154.1:p.Lys332Ter | |
| NR_147086.1:n.1913A>T | ||
| NR_147087.1:n.2250A>T | ||
| NR_147088.1:n.2357A>T | ||
| XM_006721612.2:c.994A>T | XP_006721675.1:p.Lys332Ter | |
| XM_011524090.3:c.1891A>T | XP_011522392.1:p.Lys631Ter | |
| XM_011524091.2:c.1891A>T | XP_011522393.1:p.Lys631Ter | |
| XM_011524095.2:c.1891A>T | XP_011522397.1:p.Lys631Ter | |
| XM_011524096.2:c.1891A>T | XP_011522398.1:p.Lys631Ter | |
| XM_011524098.2:c.994A>T | XP_011522400.1:p.Lys332Ter | |
| XM_011524099.2:c.994A>T | XP_011522401.1:p.Lys332Ter | |
| XM_011524100.3:c.994A>T | XP_011522402.1:p.Lys332Ter | |
| XM_017025455.2:c.1891A>T | XP_016880944.1:p.Lys631Ter | |
| XR_001752707.2:n.2053A>T | ||
| XR_001752708.2:n.2053A>T | ||
| XR_001752709.2:n.2053A>T | ||
| XR_934126.2:n.2053A>T | ||
| NM_014804.3:c.1891A>T MANE Select | NP_055619.2:p.Lys631Ter | |
| NM_001351225.2:c.994A>T | NP_001338154.1:p.Lys332Ter | |
| NR_147086.2:n.1697A>T | ||
| NR_147087.2:n.2034A>T | ||
| NR_147088.2:n.2141A>T |