Linked Data
ClinVar Variation Id:
2940251
ClinVar RCV Id:
RCV003797609
MyVariant Identifiers:
chr12:g.110034334A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109596529A>C , CM000674.2:g.109596529A>C | GRCh38 |
| NC_000012.11:g.110034334A>C , CM000674.1:g.110034334A>C | GRCh37 |
| NC_000012.10:g.108518717A>C | NCBI36 |
| NG_007702.1:g.27835A>C , LRG_156:g.27835A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.300A>C | ENSP00000439134.1:p.Ser100= | |
| ENST00000546277.6:c.1143A>C | ENSP00000438153.2:p.Ser381= | |
| ENST00000636529.2:n.782A>C | ||
| ENST00000697195.1:c.*907A>C | ENSP00000513181.1:n.*907A>C | |
| ENST00000697196.1:c.*316A>C | ENSP00000513182.1:n.*316A>C | |
| ENST00000697197.1:n.3172A>C | ||
| ENST00000697198.1:n.1527A>C | ||
| ENST00000228510.8:c.1143A>C MANE Select | ENSP00000228510.3:p.Ser381= | |
| ENST00000636529.1:c.768A>C | ||
| ENST00000636996.1:c.991A>C | ||
| ENST00000228510.7:c.1143A>C | ENSP00000228510.3:p.Ser381= | |
| ENST00000392727.7:c.987A>C | ENSP00000376487.3:p.Ser329= | |
| ENST00000447878.6:c.*590A>C | ENSP00000415555.2:n.*590A>C | |
| ENST00000537237.5:c.*816A>C | ENSP00000445382.1:n.*816A>C | |
| ENST00000539575.4:c.1143A>C | ENSP00000443551.2:p.Ser381= | |
| ENST00000539696.5:c.300A>C | ENSP00000439134.1:p.Ser100= | |
| ENST00000540353.1:n.3376A>C | ||
| ENST00000625889.2:c.987A>C | ENSP00000486846.1:p.Ser329= | |
| ENST00000629016.2:c.*590A>C | ENSP00000486804.1:n.*590A>C | |
| NM_000431.3:c.1143A>C | NP_000422.1:p.Ser381= | |
| NM_001114185.2:c.1143A>C | NP_001107657.1:p.Ser381= | |
| NM_001301182.1:c.987A>C | NP_001288111.1:p.Ser329= | |
| XM_011538372.1:c.1143A>C | XP_011536674.1:p.Ser381= | |
| XM_017019313.2:c.987A>C | XP_016874802.1:p.Ser329= | |
| XM_017019314.1:c.1143A>C | XP_016874803.1:p.Ser381= | |
| NM_000431.4:c.1143A>C MANE Select | NP_000422.1:p.Ser381= | |
| NM_001114185.3:c.1143A>C | NP_001107657.1:p.Ser381= | |
| NM_001301182.2:c.987A>C | NP_001288111.1:p.Ser329= |