Linked Data
ClinVar Variation Id:
932511
ClinVar RCV Id:
RCV001200351
dbSNP Id:
rs867320311
gnomAD v4:
12-115991493-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115991493T>C , CM000674.2:g.115991493T>C | GRCh38 |
| NC_000012.11:g.116429298T>C , CM000674.1:g.116429298T>C | GRCh37 |
| NC_000012.10:g.114913681T>C | NCBI36 |
| NG_023366.1:g.290694A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.3461A>G MANE Select | ENSP00000281928.3:p.Asn1154Ser | |
| ENST00000549786.2:c.2889A>G | ||
| ENST00000648379.1:n.1829A>G | ||
| ENST00000648737.1:n.3225A>G | ||
| ENST00000648825.1:n.201A>G | ||
| ENST00000648916.1:n.1472A>G | ||
| ENST00000649607.1:c.1645A>G | ||
| ENST00000650226.1:c.3461A>G | ENSP00000496981.1:p.Asn1154Ser | |
| ENST00000281928.7:c.3461A>G | ENSP00000281928.3:p.Asn1154Ser | |
| NM_015335.4:c.3461A>G | NP_056150.1:p.Asn1154Ser | |
| XM_011538080.1:c.3461A>G | XP_011536382.1:p.Asn1154Ser | |
| XM_011538081.1:c.3458A>G | XP_011536383.1:p.Asn1153Ser | |
| XM_011538082.1:c.3431A>G | XP_011536384.1:p.Asn1144Ser | |
| XM_011538080.2:c.3461A>G | XP_011536382.1:p.Asn1154Ser | |
| XM_011538081.2:c.3458A>G | XP_011536383.1:p.Asn1153Ser | |
| XM_011538082.2:c.3431A>G | XP_011536384.1:p.Asn1144Ser | |
| XM_017019090.1:c.3458A>G | XP_016874579.1:p.Asn1153Ser | |
| NM_015335.5:c.3461A>G MANE Select | NP_056150.1:p.Asn1154Ser |