Linked Data
ClinVar Variation Id:
93444
dbSNP Id:
rs398123526
gnomAD v2:
1-155206200-C-G
gnomAD v4:
1-155236409-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155236409C>G , CM000663.2:g.155236409C>G | GRCh38 |
| NC_000001.10:g.155206200C>G , CM000663.1:g.155206200C>G | GRCh37 |
| NC_000001.9:g.153472824C>G | NCBI36 |
| NG_009783.1:g.13289G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.1060G>C MANE Select | ENSP00000357357.3:p.Asp354His | |
| ENST00000327247.9:c.1060G>C | ENSP00000314508.5:p.Asp354His | |
| ENST00000368373.7:c.1060G>C | ENSP00000357357.3:p.Asp354His | |
| ENST00000427500.7:c.913G>C | ENSP00000402577.2:p.Asp305His | |
| ENST00000428024.3:c.799G>C | ENSP00000397986.2:p.Asp267His | |
| ENST00000478472.1:n.51G>C | ||
| ENST00000484489.5:n.340-121G>C | ||
| ENST00000491081.5:n.665G>C | ||
| ENST00000497670.5:n.683G>C | ||
| NM_000157.3:c.1060G>C | NP_000148.2:p.Asp354His | |
| NM_001005741.2:c.1060G>C | NP_001005741.1:p.Asp354His | |
| NM_001005742.2:c.1060G>C | NP_001005742.1:p.Asp354His | |
| NM_001171811.1:c.799G>C | NP_001165282.1:p.Asp267His | |
| NM_001171812.1:c.913G>C | NP_001165283.1:p.Asp305His | |
| XM_006711270.1:c.1060G>C | XP_006711333.1:p.Asp354His | |
| XM_011509407.1:c.1060G>C | XP_011507709.1:p.Asp354His | |
| NM_000157.4:c.1060G>C MANE Select | NP_000148.2:p.Asp354His | |
| NM_001005741.3:c.1060G>C | NP_001005741.1:p.Asp354His | |
| NM_001005742.3:c.1060G>C | NP_001005742.1:p.Asp354His | |
| NM_001171811.2:c.799G>C | NP_001165282.1:p.Asp267His | |
| NM_001171812.2:c.913G>C | NP_001165283.1:p.Asp305His |