Linked Data
ClinVar Variation Id:
1657200
ClinVar RCV Id:
RCV002164313
dbSNP Id:
rs762103009
ExAC:
6:51524627 C / T
gnomAD v2:
6-51524627-C-T
gnomAD v4:
6-51659829-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659829C>T , CM000668.2:g.51659829C>T | GRCh38 |
| NC_000006.11:g.51524627C>T , CM000668.1:g.51524627C>T | GRCh37 |
| NC_000006.10:g.51632586C>T | NCBI36 |
| NG_008753.1:g.432797G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10297G>A MANE Select | ENSP00000360158.3:p.Val3433Met | |
| ENST00000371117.7:c.10297G>A | ENSP00000360158.3:p.Val3433Met | |
| NM_138694.3:c.10297G>A | NP_619639.3:p.Val3433Met | |
| XM_011514679.1:c.10297G>A | XP_011512981.1:p.Val3433Met | |
| XM_011514680.1:c.10297G>A | XP_011512982.1:p.Val3433Met | |
| XM_011514681.1:c.10168G>A | XP_011512983.1:p.Val3390Met | |
| XM_011514682.1:c.10159G>A | XP_011512984.1:p.Val3387Met | |
| XM_011514683.1:c.9655G>A | XP_011512985.1:p.Val3219Met | |
| XM_011514684.1:c.9586G>A | XP_011512986.1:p.Val3196Met | |
| XM_011514687.1:c.10157-10609G>A | XP_011512989.1:n.10157-10609G>A | |
| XM_011514690.1:c.4372G>A | XP_011512992.1:p.Val1458Met | |
| XM_011514691.1:c.4372G>A | XP_011512993.1:p.Val1458Met | |
| XR_926870.1:n.535+7456C>T | ||
| XR_926871.1:n.403+7456C>T | ||
| XR_926872.1:n.535+7456C>T | ||
| XM_011514680.3:c.10297G>A | XP_011512982.1:p.Val3433Met | |
| XM_011514682.3:c.10159G>A | XP_011512984.1:p.Val3387Met | |
| XM_011514683.3:c.9655G>A | XP_011512985.1:p.Val3219Met | |
| XM_011514684.3:c.9586G>A | XP_011512986.1:p.Val3196Met | |
| XM_011514690.3:c.4372G>A | XP_011512992.1:p.Val1458Met | |
| XM_011514691.3:c.4372G>A | XP_011512993.1:p.Val1458Met | |
| XM_017010944.2:c.10297G>A | XP_016866433.1:p.Val3433Met | |
| XM_017010945.2:c.10222G>A | XP_016866434.1:p.Val3408Met | |
| XM_017010946.2:c.10102G>A | XP_016866435.1:p.Val3368Met | |
| XM_017010947.2:c.10033G>A | XP_016866436.1:p.Val3345Met | |
| XM_017010948.2:c.9586G>A | XP_016866437.1:p.Val3196Met | |
| XM_017010949.2:c.8437G>A | XP_016866438.1:p.Val2813Met | |
| XR_001743469.1:n.10573G>A | ||
| XR_001744157.1:n.3145+7456C>T | ||
| XR_926870.2:n.3145+7456C>T | ||
| XR_926871.2:n.3013+7456C>T | ||
| XR_926872.2:n.3145+7456C>T | ||
| NM_138694.4:c.10297G>A MANE Select | NP_619639.3:p.Val3433Met |