Linked Data
ClinVar Variation Id:
379917
ClinVar RCV Id:
RCV000431579
dbSNP Id:
rs1057520784
gnomAD v4:
9-2110407-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2110407A>G , CM000671.2:g.2110407A>G | GRCh38 |
| NC_000009.11:g.2110407A>G , CM000671.1:g.2110407A>G | GRCh37 |
| NC_000009.10:g.2100407A>G | NCBI36 |
| NG_032162.1:g.100066A>G | |
| NG_032162.2:g.135118A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000637134.2:c.3446A>G | ENSP00000489667.2:p.Asn1149Ser | |
| ENST00000704350.1:c.3086A>G | ENSP00000515861.1:p.Asn1029Ser | |
| ENST00000704352.1:c.1174-51279A>G | ENSP00000515863.1:n.1174-51279A>G | |
| ENST00000704353.1:c.1174-51279A>G | ENSP00000515864.1:n.1174-51279A>G | |
| ENST00000704354.1:c.3430A>G | ||
| ENST00000704355.1:c.1810A>G | ||
| ENST00000349721.8:c.3446A>G MANE Select | ENSP00000265773.5:p.Asn1149Ser | |
| ENST00000357248.8:c.3446A>G | ENSP00000349788.2:p.Asn1149Ser | |
| ENST00000635739.1:n.2114A>G | ||
| ENST00000636157.1:n.1053A>G | ||
| ENST00000638139.1:n.480A>G | ||
| ENST00000349721.7:c.3446A>G | ENSP00000265773.5:p.Asn1149Ser | |
| ENST00000357248.7:c.3446A>G | ENSP00000349788.2:p.Asn1149Ser | |
| ENST00000382194.6:c.3446A>G | ENSP00000371629.1:p.Asn1149Ser | |
| ENST00000382203.5:c.3446A>G | ENSP00000371638.1:p.Asn1149Ser | |
| ENST00000450198.6:c.3272A>G | ENSP00000392081.2:p.Asn1091Ser | |
| ENST00000634760.1:c.3446A>G | ENSP00000489256.1:p.Asn1149Ser | |
| ENST00000634772.1:c.51A>G | ||
| ENST00000634925.1:n.937A>G | ||
| NM_001289396.1:c.3446A>G | NP_001276325.1:p.Asn1149Ser | |
| NM_001289397.1:c.3272A>G | NP_001276326.1:p.Asn1091Ser | |
| NM_003070.4:c.3446A>G | NP_003061.3:p.Asn1149Ser | |
| NM_139045.3:c.3446A>G | NP_620614.2:p.Asn1149Ser | |
| NM_003070.5:c.3446A>G MANE Select | NP_003061.3:p.Asn1149Ser | |
| NM_001289397.2:c.3272A>G | NP_001276326.1:p.Asn1091Ser | |
| NM_139045.4:c.3446A>G | NP_620614.2:p.Asn1149Ser |