Linked Data
ClinVar Variation Id:
464495
ClinVar RCV Id:
RCV000532583
dbSNP Id:
rs762926166
ExAC:
12:116399159 T / C
gnomAD v2:
12-116399159-T-C
gnomAD v3:
12-115961354-T-C
gnomAD v4:
12-115961354-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115961354T>C , CM000674.2:g.115961354T>C | GRCh38 |
| NC_000012.11:g.116399159T>C , CM000674.1:g.116399159T>C | GRCh37 |
| NC_000012.10:g.114883542T>C | NCBI36 |
| NG_023366.1:g.320833A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281928.9:c.6545A>G MANE Select | ENSP00000281928.3:p.Asn2182Ser | |
| ENST00000548784.2:n.2759A>G | ||
| ENST00000648379.1:n.4913A>G | ||
| ENST00000648737.1:n.6309A>G | ||
| ENST00000648762.1:n.1235A>G | ||
| ENST00000648825.1:n.4730A>G | ||
| ENST00000648916.1:n.4556A>G | ||
| ENST00000649607.1:c.4729A>G | ||
| ENST00000649775.1:c.2876A>G | ||
| ENST00000649937.1:n.188A>G | ||
| ENST00000650226.1:c.6581A>G | ENSP00000496981.1:p.Asn2194Ser | |
| ENST00000281928.7:c.6545A>G | ENSP00000281928.3:p.Asn2182Ser | |
| NM_015335.4:c.6545A>G | NP_056150.1:p.Asn2182Ser | |
| XM_011538080.1:c.6581A>G | XP_011536382.1:p.Asn2194Ser | |
| XM_011538081.1:c.6578A>G | XP_011536383.1:p.Asn2193Ser | |
| XM_011538082.1:c.6551A>G | XP_011536384.1:p.Asn2184Ser | |
| XM_011538080.2:c.6581A>G | XP_011536382.1:p.Asn2194Ser | |
| XM_011538081.2:c.6578A>G | XP_011536383.1:p.Asn2193Ser | |
| XM_011538082.2:c.6551A>G | XP_011536384.1:p.Asn2184Ser | |
| XM_017019090.1:c.6542A>G | XP_016874579.1:p.Asn2181Ser | |
| NM_015335.5:c.6545A>G MANE Select | NP_056150.1:p.Asn2182Ser |