Linked Data
ClinVar Variation Id:
6581
ClinVar RCV Id:
RCV000006959
dbSNP Id:
rs63749796
PubMed:
PMID:15086542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16159505C>G , CM000678.2:g.16159505C>G | GRCh38 |
| NC_000016.9:g.16253362C>G , CM000678.1:g.16253362C>G | GRCh37 |
| NC_000016.8:g.16160863C>G | NCBI36 |
| NG_007558.2:g.68967G>C | |
| NG_007558.3:g.69113G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622290.5:c.3712G>C | ENSP00000483331.2:p.Asp1238His | |
| ENST00000205557.12:c.3712G>C MANE Select | ENSP00000205557.7:p.Asp1238His | |
| ENST00000640696.1:c.526G>C | ENSP00000492197.1:p.Asp176His | |
| ENST00000205557.11:c.3712G>C | ENSP00000205557.7:p.Asp1238His | |
| ENST00000456970.6:c.3337G>C | ENSP00000405002.2:n.3337G>C | |
| ENST00000622290.4:c.*921G>C | ENSP00000483331.1:n.*921G>C | |
| NM_001171.5:c.3712G>C | NP_001162.4:p.Asp1238His | |
| XM_011522479.1:c.3679G>C | XP_011520781.1:p.Asp1227His | |
| XM_011522480.1:c.3370G>C | XP_011520782.1:p.Asp1124His | |
| XM_011522481.1:c.3370G>C | XP_011520783.1:p.Asp1124His | |
| XR_932836.1:n.3947G>C | ||
| XR_932837.1:n.3748G>C | ||
| XR_932838.1:n.3748G>C | ||
| XR_933134.1:n.539-276C>G | ||
| NM_001351800.1:c.3370G>C | NP_001338729.1:p.Asp1124His | |
| NR_147784.1:n.3374G>C | ||
| XM_011522479.2:c.3679G>C | XP_011520781.1:p.Asp1227His | |
| XM_011522481.3:c.3370G>C | XP_011520783.1:p.Asp1124His | |
| XM_017023212.1:c.3544G>C | XP_016878701.1:p.Asp1182His | |
| XM_024450261.1:c.3748G>C | XP_024306029.1:p.Asp1250His | |
| XR_932836.2:n.3893G>C | ||
| XR_932837.3:n.3693G>C | ||
| XR_932838.3:n.3693G>C | ||
| NM_001171.6:c.3712G>C MANE Select | NP_001162.5:p.Asp1238His |