Linked Data
ClinVar Variation Id:
965
ClinVar RCV Id:
RCV000001016
dbSNP Id:
rs121918171
ExAC:
15:28234747 C / T
gnomAD v2:
15-28234747-C-T
gnomAD v4:
15-27989601-C-T
PubMed:
PMID:15942220
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27989601C>T , CM000677.2:g.27989601C>T | GRCh38 |
| NC_000015.9:g.28234747C>T , CM000677.1:g.28234747C>T | GRCh37 |
| NC_000015.8:g.25908342C>T | NCBI36 |
| NG_009846.1:g.114712G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354638.8:c.1182G>A MANE Select | ENSP00000346659.3:p.Met394Ile | |
| ENST00000353809.9:c.1110G>A | ENSP00000261276.8:p.Met370Ile | |
| ENST00000354638.7:c.1182G>A | ENSP00000346659.3:p.Met394Ile | |
| NM_000275.2:c.1182G>A | NP_000266.2:p.Met394Ile | |
| NM_001300984.1:c.1110G>A | NP_001287913.1:p.Met370Ile | |
| XM_011521639.1:c.1206G>A | XP_011519941.1:p.Met402Ile | |
| XM_011521640.1:c.1182G>A | XP_011519942.1:p.Met394Ile | |
| XM_011521641.1:c.1206G>A | XP_011519943.1:p.Met402Ile | |
| XM_011521642.1:c.1134G>A | XP_011519944.1:p.Met378Ile | |
| XM_011521643.1:c.1134G>A | XP_011519945.1:p.Met378Ile | |
| XM_011521644.1:c.1069-2958G>A | XP_011519946.1:n.1069-2958G>A | |
| XM_011521645.1:c.1206G>A | XP_011519947.1:p.Met402Ile | |
| XM_011521646.1:c.1206G>A | XP_011519948.1:p.Met402Ile | |
| XM_011521647.1:c.1206G>A | XP_011519949.1:p.Met402Ile | |
| XR_931843.1:n.2567G>A | ||
| XM_011521640.2:c.1182G>A | XP_011519942.1:p.Met394Ile | |
| XM_017022255.1:c.1206G>A | XP_016877744.1:p.Met402Ile | |
| XM_017022256.1:c.1206G>A | XP_016877745.1:p.Met402Ile | |
| XM_017022257.1:c.1134G>A | XP_016877746.1:p.Met378Ile | |
| XM_017022258.1:c.1206G>A | XP_016877747.1:p.Met402Ile | |
| XM_017022259.1:c.1134G>A | XP_016877748.1:p.Met378Ile | |
| XM_017022260.1:c.1069-2958G>A | XP_016877749.1:n.1069-2958G>A | |
| XM_017022261.1:c.1011G>A | XP_016877750.1:p.Met337Ile | |
| XM_017022262.1:c.1206G>A | XP_016877751.1:p.Met402Ile | |
| XM_017022263.1:c.1206G>A | XP_016877752.1:p.Met402Ile | |
| XM_017022264.1:c.1206G>A | XP_016877753.1:p.Met402Ile | |
| XM_017022265.1:c.1206G>A | XP_016877754.1:p.Met402Ile | |
| XR_001751294.1:n.1295G>A | ||
| NM_000275.3:c.1182G>A MANE Select | NP_000266.2:p.Met394Ile | |
| NM_001300984.2:c.1110G>A | NP_001287913.1:p.Met370Ile |