Linked Data
ClinVar Variation Id:
785164
ClinVar RCV Id:
RCV000966990
dbSNP Id:
rs77170610
ExAC:
6:32150047 C / T
gnomAD v2:
6-32150047-C-T
gnomAD v3:
6-32182270-C-T
gnomAD v4:
6-32182270-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32182270C>T , CM000668.2:g.32182270C>T | GRCh38 |
| NC_000006.11:g.32150047C>T , CM000668.1:g.32150047C>T | GRCh37 |
| NC_000006.10:g.32258025C>T | NCBI36 |
| NG_029868.1:g.7053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375076.9:c.941G>A MANE Select | ENSP00000364217.4:p.Arg314His | |
| ENST00000375055.6:c.941G>A | ENSP00000364195.2:p.Arg314His | |
| ENST00000375065.6:c.128G>A | ENSP00000364206.6:p.Arg43His | |
| ENST00000375067.7:c.809+269G>A | ENSP00000364208.3:n.809+269G>A | |
| ENST00000375069.7:c.989G>A | ENSP00000364210.4:p.Arg330His | |
| ENST00000375070.7:c.638G>A | ENSP00000364211.4:p.Arg213His | |
| ENST00000375076.8:c.941G>A | ENSP00000364217.4:p.Arg314His | |
| ENST00000438221.6:c.989G>A | ENSP00000387887.2:p.Arg330His | |
| ENST00000473619.5:n.483G>A | ||
| ENST00000484849.5:n.1148G>A | ||
| ENST00000488669.5:n.483G>A | ||
| ENST00000620802.4:c.283-837G>A | ENSP00000484081.1:n.283-837G>A | |
| NM_001136.4:c.941G>A | NP_001127.1:p.Arg314His | |
| NM_001206929.1:c.989G>A | NP_001193858.1:p.Arg330His | |
| NM_001206932.1:c.899G>A | NP_001193861.1:p.Arg300His | |
| NM_001206934.1:c.989G>A | NP_001193863.1:p.Arg330His | |
| NM_001206936.1:c.889G>A | NP_001193865.1:p.Val297Met | |
| NM_001206940.1:c.941G>A | NP_001193869.1:p.Arg314His | |
| NM_001206954.1:c.822+298G>A | NP_001193883.1:n.822+298G>A | |
| NM_001206966.1:c.941G>A | NP_001193895.1:p.Arg314His | |
| NM_172197.2:c.809+269G>A | NP_751947.1:n.809+269G>A | |
| NR_038190.1:n.1224G>A | ||
| XM_017010328.2:c.963+298G>A | XP_016865817.1:n.963+298G>A | |
| XR_001743189.2:n.1028+298G>A | ||
| XR_001743190.2:n.980+298G>A | ||
| NM_001136.5:c.941G>A MANE Select | NP_001127.1:p.Arg314His | |
| NM_001206932.2:c.899G>A | NP_001193861.1:p.Arg300His | |
| NM_001206936.2:c.889G>A | NP_001193865.1:p.Val297Met | |
| NM_001206940.2:c.941G>A | NP_001193869.1:p.Arg314His | |
| NM_001206954.2:c.822+298G>A | NP_001193883.1:n.822+298G>A | |
| NM_001206966.2:c.941G>A | NP_001193895.1:p.Arg314His | |
| NM_172197.3:c.809+269G>A | NP_751947.1:n.809+269G>A | |
| NR_038190.2:n.1155G>A | ||
| NM_001206929.2:c.989G>A | NP_001193858.1:p.Arg330His | |
| NM_001206934.2:c.989G>A | NP_001193863.1:p.Arg330His |