Linked Data
ClinVar Variation Id:
773670
ClinVar RCV Id:
RCV000953472
dbSNP Id:
rs189287776
ExAC:
3:11301768 G / C
gnomAD v2:
3-11301768-G-C
gnomAD v3:
3-11260082-G-C
gnomAD v4:
3-11260082-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.11260082G>C , CM000665.2:g.11260082G>C | GRCh38 |
| NC_000003.11:g.11301768G>C , CM000665.1:g.11301768G>C | GRCh37 |
| NC_000003.10:g.11276768G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431010.3:c.1045G>C MANE Select | ENSP00000397028.2:p.Asp349His | |
| ENST00000397056.1:c.1045G>C | ENSP00000380247.1:p.Asp349His | |
| ENST00000431010.2:c.1045G>C | ENSP00000397028.2:p.Asp349His | |
| ENST00000438284.2:c.1045G>C | ENSP00000406705.2:p.Asp349His | |
| NM_000861.3:c.1045G>C | NP_000852.1:p.Asp349His | |
| NM_001098211.1:c.1045G>C | NP_001091681.1:p.Asp349His | |
| NM_001098212.1:c.1045G>C | NP_001091682.1:p.Asp349His | |
| NM_001098213.1:c.1045G>C | NP_001091683.1:p.Asp349His | |
| XM_011533652.1:c.1045G>C | XP_011531954.1:p.Asp349His | |
| XM_011533653.1:c.1045G>C | XP_011531955.1:p.Asp349His | |
| XM_011533654.1:c.1045G>C | XP_011531956.1:p.Asp349His | |
| XM_011533655.1:c.1045G>C | XP_011531957.1:p.Asp349His | |
| XM_011533653.2:c.1045G>C | XP_011531955.1:p.Asp349His | |
| XM_017006283.1:c.1045G>C | XP_016861772.1:p.Asp349His | |
| XM_017006284.1:c.1045G>C | XP_016861773.1:p.Asp349His | |
| NM_001098211.2:c.1045G>C | NP_001091681.1:p.Asp349His | |
| NM_001098212.2:c.1045G>C MANE Select | NP_001091682.1:p.Asp349His | |
| NM_001098213.2:c.1045G>C | NP_001091683.1:p.Asp349His |