Linked Data
ClinVar Variation Id:
736452
ClinVar RCV Id:
RCV000912104
dbSNP Id:
rs1595283257
MyVariant Identifiers:
chr14:g.105688229G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105221892G>C , CM000676.2:g.105221892G>C | GRCh38 |
| NC_000014.8:g.105688229G>C , CM000676.1:g.105688229G>C | GRCh37 |
| NC_000014.7:g.104759274G>C | NCBI36 |
| NG_029489.1:g.98686C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547530.7:c.1071C>G MANE Select | ENSP00000448387.2:p.Ser357= | |
| ENST00000327359.7:c.726C>G | ENSP00000329029.3:p.Ser242= | |
| ENST00000379932.8:c.266+4779C>G | ENSP00000369264.5:n.266+4779C>G | |
| ENST00000379937.6:c.990C>G | ENSP00000369269.2:p.Ser330= | |
| ENST00000392557.8:c.459C>G | ENSP00000376340.4:p.Ser153= | |
| ENST00000440513.7:c.726C>G | ENSP00000388877.3:p.Ser242= | |
| ENST00000446501.6:c.357C>G | ENSP00000389859.2:p.Ser119= | |
| ENST00000547052.1:n.261C>G | ||
| ENST00000547530.6:c.1071C>G | ENSP00000448387.2:p.Ser357= | |
| ENST00000547562.5:n.1793C>G | ||
| ENST00000549655.5:c.459C>G | ENSP00000448723.2:p.Ser153= | |
| ENST00000551787.5:c.402+4211C>G | ENSP00000446901.1:n.402+4211C>G | |
| ENST00000552127.5:c.459C>G | ENSP00000449788.1:p.Ser153= | |
| ENST00000619151.4:c.391+4222C>G | ENSP00000480452.1:n.391+4222C>G | |
| ENST00000635152.1:n.654C>G | ||
| NM_001242786.1:c.726C>G | NP_001229715.1:p.Ser242= | |
| NM_001242787.1:c.726C>G | NP_001229716.1:p.Ser242= | |
| NM_001242788.1:c.990C>G | NP_001229717.1:p.Ser330= | |
| NM_001242789.1:c.357C>G | NP_001229718.1:p.Ser119= | |
| NM_001519.3:c.1071C>G | NP_001510.2:p.Ser357= | |
| NM_145685.2:c.459C>G | NP_663718.1:p.Ser153= | |
| XM_005267561.3:c.1071C>G | XP_005267618.1:p.Ser357= | |
| XM_005267563.2:c.459C>G | XP_005267620.1:p.Ser153= | |
| XM_006720123.2:c.408C>G | XP_006720186.1:p.Ser136= | |
| XM_011536672.1:c.1071C>G | XP_011534974.1:p.Ser357= | |
| XM_011536673.1:c.921C>G | XP_011534975.1:p.Ser307= | |
| XM_011536674.1:c.558C>G | XP_011534976.1:p.Ser186= | |
| XM_005267561.4:c.1071C>G | XP_005267618.1:p.Ser357= | |
| XM_005267563.4:c.459C>G | XP_005267620.1:p.Ser153= | |
| XM_011536672.3:c.1071C>G | XP_011534974.1:p.Ser357= | |
| XM_011536673.2:c.921C>G | XP_011534975.1:p.Ser307= | |
| XM_024449553.1:c.357C>G | XP_024305321.1:p.Ser119= | |
| NM_001519.4:c.1071C>G MANE Select | NP_001510.2:p.Ser357= | |
| NM_001242788.2:c.990C>G | NP_001229717.1:p.Ser330= | |
| NM_001242786.2:c.726C>G | NP_001229715.1:p.Ser242= | |
| NM_001242787.2:c.726C>G | NP_001229716.1:p.Ser242= | |
| NM_001242789.2:c.357C>G | NP_001229718.1:p.Ser119= | |
| NM_145685.3:c.459C>G | NP_663718.1:p.Ser153= |