Linked Data
ClinVar Variation Id:
776177
ClinVar RCV Id:
RCV000956435
dbSNP Id:
rs114815467
ExAC:
6:155451476 G / T
gnomAD v2:
6-155451476-G-T
gnomAD v3:
6-155130342-G-T
gnomAD v4:
6-155130342-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.155130342G>T , CM000668.2:g.155130342G>T | GRCh38 |
| NC_000006.11:g.155451476G>T , CM000668.1:g.155451476G>T | GRCh37 |
| NC_000006.10:g.155493168G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682666.1:c.1119G>T MANE Select | ENSP00000507157.1:p.Lys373Asn | |
| ENST00000318981.9:c.1119G>T | ENSP00000327315.5:p.Lys373Asn | |
| ENST00000360366.8:c.1119G>T | ENSP00000353528.4:p.Lys373Asn | |
| ENST00000461783.7:c.1119G>T | ENSP00000437188.2:p.Lys373Asn | |
| ENST00000528535.5:c.1119G>T | ENSP00000434901.1:p.Lys373Asn | |
| ENST00000529824.6:c.1119G>T | ENSP00000433348.2:p.Lys373Asn | |
| NM_012454.3:c.1119G>T | NP_036586.2:p.Lys373Asn | |
| NM_001384546.1:c.1119G>T | NP_001371475.1:p.Lys373Asn | |
| NM_001384547.1:c.1119G>T | NP_001371476.1:p.Lys373Asn | |
| NM_012454.4:c.1119G>T MANE Select | NP_036586.3:p.Lys373Asn |