Linked Data
ClinVar Variation Id:
161574
ClinVar RCV Id:
RCV000149109
dbSNP Id:
rs193920748
gnomAD v4:
9-34556323-C-G
COSMIC:
COSM1178683
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34556323C>G , CM000671.2:g.34556323C>G | GRCh38 |
| NC_000009.11:g.34556321C>G , CM000671.1:g.34556321C>G | GRCh37 |
| NC_000009.10:g.34546321C>G | NCBI36 |
| NG_047044.1:g.38818G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378980.8:c.700G>C MANE Select | ENSP00000368265.3:p.Asp234His | |
| ENST00000351266.8:c.700G>C | ENSP00000242338.4:p.Asp234His | |
| ENST00000378980.7:c.700G>C | ENSP00000368265.3:p.Asp234His | |
| ENST00000417345.2:c.700G>C | ENSP00000388082.1:p.Asp234His | |
| ENST00000610543.4:c.700G>C | ENSP00000480451.1:p.Asp234His | |
| NM_001207011.1:c.700G>C | NP_001193940.1:p.Asp234His | |
| NM_001842.4:c.700G>C | NP_001833.1:p.Asp234His | |
| NM_147164.2:c.700G>C | NP_671693.1:p.Asp234His | |
| XM_011517707.1:c.700G>C | XP_011516009.1:p.Asp234His | |
| XM_017014260.1:c.901G>C | XP_016869749.1:p.Asp301His | |
| XM_017014261.1:c.901G>C | XP_016869750.1:p.Asp301His | |
| XM_017014262.1:c.901G>C | XP_016869751.1:p.Asp301His | |
| XM_017014263.1:c.700G>C | XP_016869752.1:p.Asp234His | |
| XM_017014264.1:c.700G>C | XP_016869753.1:p.Asp234His | |
| XM_017014265.1:c.700G>C | XP_016869754.1:p.Asp234His | |
| NM_147164.3:c.700G>C MANE Select | NP_671693.1:p.Asp234His | |
| NM_001842.5:c.700G>C | NP_001833.1:p.Asp234His | |
| NM_001207011.2:c.700G>C | NP_001193940.1:p.Asp234His |