Linked Data
ClinVar Variation Id:
427177
dbSNP Id:
rs377050184
ExAC:
8:43053003 C / A
gnomAD v2:
8-43053003-C-A
gnomAD v4:
8-43197860-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43197860C>A , CM000670.2:g.43197860C>A | GRCh38 |
| NC_000008.10:g.43053003C>A , CM000670.1:g.43053003C>A | GRCh37 |
| NC_000008.9:g.43172160C>A | NCBI36 |
| NG_009552.1:g.62412C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1634C>A MANE Select | ENSP00000368965.4:p.Thr545Lys | |
| ENST00000379644.8:c.1634C>A | ENSP00000368965.4:p.Thr545Lys | |
| ENST00000519705.1:n.950C>A | ||
| ENST00000521576.1:c.785C>A | ENSP00000429029.1:p.Thr262Lys | |
| ENST00000523989.1:n.1947C>A | ||
| NM_152419.2:c.1634C>A | NP_689632.2:p.Thr545Lys | |
| XM_005273409.1:c.1745C>A | XP_005273466.1:p.Thr582Lys | |
| XM_005273410.1:c.1721C>A | XP_005273467.1:p.Thr574Lys | |
| XM_005273411.1:c.1553C>A | XP_005273468.1:p.Thr518Lys | |
| NM_001363227.1:c.1721C>A | NP_001350156.1:p.Thr574Lys | |
| NM_001363228.1:c.1442C>A | NP_001350157.1:p.Thr481Lys | |
| NM_001363229.1:c.770C>A | NP_001350158.1:p.Thr257Lys | |
| NM_152419.3:c.1634C>A MANE Select | NP_689632.2:p.Thr545Lys | |
| NM_001363227.2:c.1721C>A | NP_001350156.1:p.Thr574Lys | |
| NM_001363228.2:c.1442C>A | NP_001350157.1:p.Thr481Lys | |
| NM_001363229.2:c.770C>A | NP_001350158.1:p.Thr257Lys |