Linked Data
ClinVar Variation Id:
2031748
ClinVar RCV Id:
RCV002867447
MyVariant Identifiers:
chr12:g.12038949G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.11886015G>A , CM000674.2:g.11886015G>A | GRCh38 |
| NC_000012.11:g.12038949G>A , CM000674.1:g.12038949G>A | GRCh37 |
| NC_000012.10:g.11930216G>A | NCBI36 |
| NG_011443.1:g.241162G>A , LRG_609:g.241162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396373.9:c.1242G>A MANE Select | ENSP00000379658.3:p.Arg414= | |
| ENST00000266427.3:c.79G>A | ||
| ENST00000396373.8:c.1242G>A | ENSP00000379658.3:p.Arg414= | |
| NM_001987.4:c.1242G>A , LRG_609t1:c.1242G>A | NP_001978.1:p.Arg414= | |
| XM_011520607.1:c.1239G>A | XP_011518909.1:p.Arg413= | |
| XM_011520608.1:c.1215G>A | XP_011518910.1:p.Arg405= | |
| XM_011520609.1:c.978G>A | XP_011518911.1:p.Arg326= | |
| XM_011520610.1:c.978G>A | XP_011518912.1:p.Arg326= | |
| XM_011520611.1:c.978G>A | XP_011518913.1:p.Arg326= | |
| XM_011520612.1:c.621G>A | XP_011518914.1:p.Arg207= | |
| XM_011520607.2:c.1239G>A | XP_011518909.1:p.Arg413= | |
| XM_011520608.2:c.1215G>A | XP_011518910.1:p.Arg405= | |
| XM_011520609.2:c.978G>A | XP_011518911.1:p.Arg326= | |
| XM_011520611.2:c.978G>A | XP_011518913.1:p.Arg326= | |
| XM_011520612.2:c.621G>A | XP_011518914.1:p.Arg207= | |
| XM_017018990.1:c.1107G>A | XP_016874479.1:p.Arg369= | |
| XM_017018991.1:c.978G>A | XP_016874480.1:p.Arg326= | |
| NM_001987.5:c.1242G>A MANE Select | NP_001978.1:p.Arg414= |