Linked Data
ClinVar Variation Id:
156330
ClinVar RCV Id:
RCV000455042
dbSNP Id:
rs77144485
ExAC:
1:161518336 C / T
gnomAD v2:
1-161518336-C-T
gnomAD v3:
1-161548546-C-T
gnomAD v4:
1-161548546-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161548546C>T , CM000663.2:g.161548546C>T | GRCh38 |
| NC_000001.10:g.161518336C>T , CM000663.1:g.161518336C>T | GRCh37 |
| NC_000001.9:g.159784960C>T | NCBI36 |
| NG_009066.1:g.7078G>A , LRG_60:g.7078G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367967.8:c.194G>A | ENSP00000356944.3:p.Ser65Asn | |
| ENST00000426740.8:c.191G>A | ENSP00000410180.3:p.Ser64Asn | |
| ENST00000436743.7:c.194G>A | ENSP00000416607.1:p.Ser65Asn | |
| ENST00000442336.2:c.191G>A | ENSP00000396567.2:p.Ser64Asn | |
| ENST00000699395.1:c.194G>A | ENSP00000514356.1:p.Ser65Asn | |
| ENST00000699396.1:c.194G>A | ENSP00000514357.1:p.Ser65Asn | |
| ENST00000699397.1:c.194G>A | ENSP00000514358.1:p.Ser65Asn | |
| ENST00000699398.1:c.194G>A | ENSP00000514359.1:p.Ser65Asn | |
| ENST00000699399.1:c.143G>A | ENSP00000514360.1:p.Ser48Asn | |
| ENST00000699400.1:c.191G>A | ENSP00000514361.1:p.Ser64Asn | |
| ENST00000699401.1:c.194G>A | ENSP00000514362.1:p.Ser65Asn | |
| ENST00000699402.1:c.191G>A | ENSP00000514363.1:p.Ser64Asn | |
| ENST00000699403.1:c.194G>A | ENSP00000514364.1:p.Ser65Asn | |
| ENST00000699493.1:c.194G>A | ENSP00000514404.1:p.Ser65Asn | |
| ENST00000426740.7:c.191G>A | ENSP00000410180.3:p.Ser64Asn | |
| ENST00000436743.6:c.194G>A | ENSP00000416607.1:p.Ser65Asn | |
| ENST00000443193.6:c.194G>A MANE Select | ENSP00000392047.2:p.Ser65Asn | |
| ENST00000367967.7:c.194G>A | ENSP00000356944.3:p.Ser65Asn | |
| ENST00000367969.7:c.302G>A | ENSP00000356946.3:p.Ser101Asn | |
| ENST00000426740.5:c.244G>A | ||
| ENST00000436743.5:c.194G>A | ENSP00000416607.1:p.Ser65Asn | |
| ENST00000442336.1:c.191G>A | ENSP00000396567.1:p.Ser64Asn | |
| ENST00000443193.5:c.194G>A | ENSP00000392047.2:p.Ser65Asn | |
| ENST00000476031.1:n.188G>A | ||
| NM_000569.6:c.302G>A | NP_000560.5:p.Ser101Asn | |
| NM_001127592.1:c.299G>A | NP_001121064.1:p.Ser100Asn | |
| NM_001127593.1:c.194G>A , LRG_60t1:c.194G>A | NP_001121065.1:p.Ser65Asn | |
| NM_001127595.1:c.194G>A | NP_001121067.1:p.Ser65Asn | |
| NM_001127596.1:c.191G>A | NP_001121068.1:p.Ser64Asn | |
| XM_011509293.1:c.302G>A | XP_011507595.1:p.Ser101Asn | |
| NM_000569.7:c.509G>A | NP_000560.6:p.Ser170Asn | |
| NM_001127592.2:c.506G>A | NP_001121064.2:p.Ser169Asn | |
| NM_001329120.1:c.194G>A | NP_001316049.1:p.Ser65Asn | |
| NM_001329122.1:c.509G>A | NP_001316051.1:p.Ser170Asn | |
| XM_024454064.1:c.191G>A | XP_024309832.1:p.Ser64Asn | |
| NM_001127595.2:c.194G>A | NP_001121067.1:p.Ser65Asn | |
| NM_001127596.2:c.191G>A | NP_001121068.1:p.Ser64Asn | |
| NM_000569.8:c.194G>A MANE Select | NP_000560.7:p.Ser65Asn | |
| NM_001329120.2:c.194G>A | NP_001316049.1:p.Ser65Asn | |
| NM_001386450.1:c.191G>A | NP_001373379.1:p.Ser64Asn |