Linked Data
ClinVar Variation Id:
161352
dbSNP Id:
rs199469491
ExAC:
3:93611837 A / C
gnomAD v2:
3-93611837-A-C
gnomAD v3:
3-93892993-A-C
gnomAD v4:
3-93892993-A-C
PubMed:
PMID:25637381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93892993A>C , CM000665.2:g.93892993A>C | GRCh38 |
| NC_000003.11:g.93611837A>C , CM000665.1:g.93611837A>C | GRCh37 |
| NC_000003.10:g.95094527A>C | NCBI36 |
| NG_009813.1:g.86098T>G , LRG_572:g.86098T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.1095T>G | ENSP00000330021.7:p.Asn365Lys | |
| ENST00000394236.9:c.1095T>G MANE Select | ENSP00000377783.3:p.Asn365Lys | |
| ENST00000407433.6:c.1050T>G | ENSP00000385794.2:p.Asn350Lys | |
| ENST00000647936.1:c.1095T>G | ENSP00000496822.1:p.Asn365Lys | |
| ENST00000648381.1:n.1263T>G | ||
| ENST00000648853.1:c.1053T>G | ENSP00000497262.1:p.Asn351Lys | |
| ENST00000649103.1:c.1194T>G | ENSP00000497962.1:n.1194T>G | |
| ENST00000650591.1:c.1191T>G | ENSP00000497376.1:p.Asn397Lys | |
| ENST00000394236.7:c.1095T>G | ENSP00000377783.3:p.Asn365Lys | |
| ENST00000407433.5:c.702T>G | ENSP00000385794.1:p.Asn234Lys | |
| NM_000313.3:c.1095T>G , LRG_572t1:c.1095T>G | NP_000304.2:p.Asn365Lys | |
| NM_001314077.1:c.1191T>G , LRG_572t2:c.1191T>G | NP_001301006.1:p.Asn397Lys | |
| NM_000313.4:c.1095T>G MANE Select | NP_000304.2:p.Asn365Lys | |
| NM_001314077.2:c.1191T>G | NP_001301006.1:p.Asn397Lys |