Linked Data
dbSNP Id:
rs1878059940
gnomAD v4:
12-115991537-G-A
MyVariant Identifiers:
chr12:g.116429342G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115991537G>A , CM000674.2:g.115991537G>A | GRCh38 |
| NC_000012.11:g.116429342G>A , CM000674.1:g.116429342G>A | GRCh37 |
| NC_000012.10:g.114913725G>A | NCBI36 |
| NG_023366.1:g.290650C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.3417C>T MANE Select | ENSP00000281928.3:p.Asn1139= | |
| ENST00000549786.2:c.2845C>T | ||
| ENST00000648379.1:n.1785C>T | ||
| ENST00000648737.1:n.3181C>T | ||
| ENST00000648825.1:n.157C>T | ||
| ENST00000648916.1:n.1428C>T | ||
| ENST00000649607.1:c.1601C>T | ||
| ENST00000650226.1:c.3417C>T | ENSP00000496981.1:p.Asn1139= | |
| ENST00000281928.7:c.3417C>T | ENSP00000281928.3:p.Asn1139= | |
| NM_015335.4:c.3417C>T | NP_056150.1:p.Asn1139= | |
| XM_011538080.1:c.3417C>T | XP_011536382.1:p.Asn1139= | |
| XM_011538081.1:c.3414C>T | XP_011536383.1:p.Asn1138= | |
| XM_011538082.1:c.3387C>T | XP_011536384.1:p.Asn1129= | |
| XM_011538080.2:c.3417C>T | XP_011536382.1:p.Asn1139= | |
| XM_011538081.2:c.3414C>T | XP_011536383.1:p.Asn1138= | |
| XM_011538082.2:c.3387C>T | XP_011536384.1:p.Asn1129= | |
| XM_017019090.1:c.3414C>T | XP_016874579.1:p.Asn1138= | |
| NM_015335.5:c.3417C>T MANE Select | NP_056150.1:p.Asn1139= |