Linked Data
ClinVar Variation Id:
11897
ClinVar RCV Id:
RCV000012672
dbSNP Id:
rs121965067
gnomAD v4:
4-186284167-C-A
PubMed:
PMID:9401068
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284167C>A , CM000666.2:g.186284167C>A | GRCh38 |
| NC_000004.11:g.187205321C>A , CM000666.1:g.187205321C>A | GRCh37 |
| NC_000004.10:g.187442315C>A | NCBI36 |
| NG_008051.1:g.23204C>A , LRG_583:g.23204C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1211C>A MANE Select | ENSP00000384957.2:p.Thr404Asn | |
| ENST00000264692.8:c.1049C>A | ENSP00000264692.5:p.Thr350Asn | |
| ENST00000403665.6:c.1211C>A | ENSP00000384957.2:p.Thr404Asn | |
| NM_000128.3:c.1211C>A , LRG_583t1:c.1211C>A | NP_000119.1:p.Thr404Asn | |
| XM_005262821.2:c.1214C>A | XP_005262878.1:p.Thr405Asn | |
| XM_005262822.2:c.1214C>A | XP_005262879.1:p.Thr405Asn | |
| XM_005262823.2:c.944C>A | XP_005262880.1:p.Thr315Asn | |
| XM_005262824.1:c.1214C>A | XP_005262881.1:p.Thr405Asn | |
| XM_006714137.1:c.1166C>A | XP_006714200.1:p.Thr389Asn | |
| XR_938706.1:n.1619C>A | ||
| XR_938707.1:n.1619C>A | ||
| XM_005262821.4:c.1214C>A | XP_005262878.1:p.Thr405Asn | |
| XM_005262822.4:c.1214C>A | XP_005262879.1:p.Thr405Asn | |
| XM_005262823.4:c.944C>A | XP_005262880.1:p.Thr315Asn | |
| XM_006714137.3:c.1166C>A | XP_006714200.1:p.Thr389Asn | |
| XM_017007884.2:c.*2183C>A | XP_016863373.1:n.*2183C>A | |
| XR_001741172.2:n.1685C>A | ||
| NM_000128.4:c.1211C>A MANE Select | NP_000119.1:p.Thr404Asn |