Linked Data
ClinVar Variation Id:
550167
ClinVar RCV Id:
RCV000664836
dbSNP Id:
rs548882067
ExAC:
2:73716998 T / A
gnomAD v2:
2-73716998-T-A
gnomAD v3:
2-73489871-T-A
gnomAD v4:
2-73489871-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73489871T>A , CM000664.2:g.73489871T>A | GRCh38 |
| NC_000002.11:g.73716998T>A , CM000664.1:g.73716998T>A | GRCh37 |
| NC_000002.10:g.73570506T>A | NCBI36 |
| NG_011690.1:g.109119T>A , LRG_741:g.109119T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7531T>A | ENSP00000507671.1:p.Ser2511Thr | |
| ENST00000682801.1:c.7531T>A | ENSP00000507862.1:p.Ser2511Thr | |
| ENST00000682859.1:c.7531T>A | ENSP00000508222.1:p.Ser2511Thr | |
| ENST00000683791.1:c.923T>A | ||
| ENST00000684460.1:c.4983T>A | ||
| ENST00000684548.1:c.7531T>A | ENSP00000507421.1:p.Ser2511Thr | |
| ENST00000684590.1:c.1978T>A | ENSP00000507376.1:p.Ser660Thr | |
| ENST00000684656.1:c.4983T>A | ||
| ENST00000613296.6:c.7912T>A MANE Select | ENSP00000482968.1:p.Ser2638Thr | |
| ENST00000651434.1:c.896-29904T>A | ||
| ENST00000423048.5:c.2743T>A | ENSP00000399833.1:p.Ser915Thr | |
| ENST00000484298.5:c.7786T>A | ENSP00000478155.1:p.Ser2596Thr | |
| ENST00000613296.4:c.7912T>A | ENSP00000482968.1:p.Ser2638Thr | |
| ENST00000614410.4:c.7912T>A | ENSP00000479094.1:p.Ser2638Thr | |
| ENST00000620466.4:n.1715T>A | ||
| NM_015120.4:c.7915T>A , LRG_741t1:c.7915T>A | NP_055935.4:p.Ser2639Thr | |
| NM_001378454.1:c.7912T>A MANE Select | NP_001365383.1:p.Ser2638Thr |