Linked Data
ClinVar Variation Id:
2827251
ClinVar RCV Id:
RCV003648312
dbSNP Id:
rs1263192570
gnomAD v2:
11-1778562-G-A
gnomAD v4:
11-1757332-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1757332G>A , CM000673.2:g.1757332G>A | GRCh38 |
| NC_000011.9:g.1778562G>A , CM000673.1:g.1778562G>A | GRCh37 |
| NC_000011.8:g.1735138G>A | NCBI36 |
| NG_008655.1:g.11661C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.696C>T MANE Select | ENSP00000236671.2:p.Tyr232= | |
| ENST00000367196.4:c.591C>T | ENSP00000356164.4:p.Tyr197= | |
| ENST00000427721.3:c.121C>T | ||
| ENST00000429746.2:c.591C>T | ENSP00000402586.2:p.Tyr197= | |
| ENST00000433655.6:c.696C>T | ENSP00000404902.1:p.Tyr232= | |
| ENST00000438213.6:c.696C>T | ENSP00000415036.2:p.Tyr232= | |
| ENST00000636397.1:c.696C>T | ENSP00000489910.1:p.Tyr232= | |
| ENST00000636571.1:c.675C>T | ENSP00000490770.1:p.Tyr225= | |
| ENST00000636615.1:c.696C>T | ENSP00000490014.1:p.Tyr232= | |
| ENST00000636843.1:c.690C>T | ENSP00000490897.1:p.Tyr230= | |
| ENST00000637158.1:n.294C>T | ||
| ENST00000637381.2:n.3124C>T | ||
| ENST00000637387.1:c.696C>T | ENSP00000490598.1:p.Tyr232= | |
| ENST00000637815.2:c.696C>T | ENSP00000490344.1:p.Tyr232= | |
| ENST00000637915.1:c.696C>T | ENSP00000490471.1:p.Tyr232= | |
| ENST00000678991.1:c.*557C>T | ENSP00000503019.1:n.*557C>T | |
| ENST00000236671.6:c.696C>T | ENSP00000236671.2:p.Tyr232= | |
| ENST00000367196.3:c.591C>T | ENSP00000356164.3:p.Tyr197= | |
| ENST00000427721.2:c.96C>T | ENSP00000415840.2:p.Tyr32= | |
| ENST00000433655.5:c.696C>T | ENSP00000404902.1:p.Tyr232= | |
| ENST00000438213.5:c.651C>T | ENSP00000415036.1:p.Tyr217= | |
| NM_001909.4:c.696C>T | NP_001900.1:p.Tyr232= | |
| NM_001909.5:c.696C>T MANE Select | NP_001900.1:p.Tyr232= |