Linked Data
ClinVar Variation Id:
11336
ClinVar RCV Id:
RCV000012089
dbSNP Id:
rs28935177
gnomAD v4:
X-80026860-A-T
PubMed:
PMID:14729838
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80026860A>T , CM000685.2:g.80026860A>T | GRCh38 |
| NC_000023.10:g.79282359A>T , CM000685.1:g.79282359A>T | GRCh37 |
| NC_000023.9:g.79169015A>T | NCBI36 |
| NG_008998.1:g.17105A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373296.8:c.790A>T MANE Select | ENSP00000362393.3:p.Asn264Tyr | |
| ENST00000373294.8:c.790A>T | ENSP00000362390.5:p.Asn264Tyr | |
| ENST00000373296.7:c.790A>T | ENSP00000362393.3:p.Asn264Tyr | |
| ENST00000626498.2:c.*402A>T | ENSP00000487527.1:n.*402A>T | |
| ENST00000626877.1:n.669A>T | ||
| NM_001109878.1:c.790A>T | NP_001103348.1:p.Asn264Tyr | |
| NM_001109879.1:c.430A>T | NP_001103349.1:p.Asn144Tyr | |
| NM_001303475.1:c.430A>T | NP_001290404.1:p.Asn144Tyr | |
| NM_016954.2:c.790A>T | NP_058650.1:p.Asn264Tyr | |
| XM_005262136.2:c.793A>T | XP_005262193.1:p.Asn265Tyr | |
| XM_006724657.2:c.793A>T | XP_006724720.1:p.Asn265Tyr | |
| XM_011530972.1:c.430A>T | XP_011529274.1:p.Asn144Tyr | |
| NM_001109878.2:c.790A>T MANE Select | NP_001103348.1:p.Asn264Tyr | |
| NM_001109879.2:c.430A>T | NP_001103349.1:p.Asn144Tyr |