Linked Data
ClinVar Variation Id:
3021755
ClinVar RCV Id:
RCV003880338
MyVariant Identifiers:
chr12:g.116408409G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115970604G>A , CM000674.2:g.115970604G>A | GRCh38 |
| NC_000012.11:g.116408409G>A , CM000674.1:g.116408409G>A | GRCh37 |
| NC_000012.10:g.114892792G>A | NCBI36 |
| NG_023366.1:g.311583C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.6057C>T MANE Select | ENSP00000281928.3:p.Ser2019= | |
| ENST00000548784.2:n.2271C>T | ||
| ENST00000648379.1:n.4425C>T | ||
| ENST00000648737.1:n.5821C>T | ||
| ENST00000648825.1:n.4242C>T | ||
| ENST00000648916.1:n.4068C>T | ||
| ENST00000649607.1:c.4241C>T | ||
| ENST00000649775.1:c.2546C>T | ||
| ENST00000650226.1:c.6093C>T | ENSP00000496981.1:p.Ser2031= | |
| ENST00000281928.7:c.6057C>T | ENSP00000281928.3:p.Ser2019= | |
| NM_015335.4:c.6057C>T | NP_056150.1:p.Ser2019= | |
| XM_011538080.1:c.6093C>T | XP_011536382.1:p.Ser2031= | |
| XM_011538081.1:c.6090C>T | XP_011536383.1:p.Ser2030= | |
| XM_011538082.1:c.6063C>T | XP_011536384.1:p.Ser2021= | |
| XM_011538080.2:c.6093C>T | XP_011536382.1:p.Ser2031= | |
| XM_011538081.2:c.6090C>T | XP_011536383.1:p.Ser2030= | |
| XM_011538082.2:c.6063C>T | XP_011536384.1:p.Ser2021= | |
| XM_017019090.1:c.6054C>T | XP_016874579.1:p.Ser2018= | |
| NM_015335.5:c.6057C>T MANE Select | NP_056150.1:p.Ser2019= |