Linked Data
ClinVar Variation Id:
2181471
ClinVar RCV Id:
RCV002606166
dbSNP Id:
rs886056305
gnomAD v2:
2-73679585-G-T
gnomAD v3:
2-73452458-G-T
gnomAD v4:
2-73452458-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73452458G>T , CM000664.2:g.73452458G>T | GRCh38 |
| NC_000002.11:g.73679585G>T , CM000664.1:g.73679585G>T | GRCh37 |
| NC_000002.10:g.73533093G>T | NCBI36 |
| NG_011690.1:g.71706G>T , LRG_741:g.71706G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.5550G>T | ENSP00000507671.1:p.Lys1850Asn | |
| ENST00000682801.1:c.5550G>T | ENSP00000507862.1:p.Lys1850Asn | |
| ENST00000682859.1:c.5550G>T | ENSP00000508222.1:p.Lys1850Asn | |
| ENST00000683791.1:c.685+20167G>T | ||
| ENST00000684197.1:n.900G>T | ||
| ENST00000684460.1:c.3002G>T | ||
| ENST00000684548.1:c.5550G>T | ENSP00000507421.1:p.Lys1850Asn | |
| ENST00000684590.1:c.48G>T | ENSP00000507376.1:p.Lys16Asn | |
| ENST00000684656.1:c.3002G>T | ||
| ENST00000613296.6:c.5931G>T MANE Select | ENSP00000482968.1:p.Lys1977Asn | |
| ENST00000423048.5:c.762G>T | ENSP00000399833.1:p.Lys254Asn | |
| ENST00000484298.5:c.5805G>T | ENSP00000478155.1:p.Lys1935Asn | |
| ENST00000613296.4:c.5931G>T | ENSP00000482968.1:p.Lys1977Asn | |
| ENST00000614410.4:c.5931G>T | ENSP00000479094.1:p.Lys1977Asn | |
| NM_015120.4:c.5934G>T , LRG_741t1:c.5934G>T | NP_055935.4:p.Lys1978Asn | |
| NM_001378454.1:c.5931G>T MANE Select | NP_001365383.1:p.Lys1977Asn |