Linked Data
ClinVar Variation Id:
2130647
ClinVar RCV Id:
RCV003052200
dbSNP Id:
rs766636607
ExAC:
1:120458248 G / A
gnomAD v2:
1-120458248-G-A
gnomAD v4:
1-119915625-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119915625G>A , CM000663.2:g.119915625G>A | GRCh38 |
| NC_000001.10:g.120458248G>A , CM000663.1:g.120458248G>A | GRCh37 |
| NC_000001.9:g.120259771G>A | NCBI36 |
| NG_008163.1:g.159029C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.7097C>T MANE Select | ENSP00000256646.2:p.Ala2366Val | |
| ENST00000256646.6:c.7097C>T | ENSP00000256646.2:p.Ala2366Val | |
| NM_024408.3:c.7097C>T | NP_077719.2:p.Ala2366Val | |
| XM_005270901.2:c.6980C>T | XP_005270958.1:p.Ala2327Val | |
| XM_011541519.1:c.7085C>T | XP_011539821.1:p.Ala2362Val | |
| XM_011541520.1:c.6980C>T | XP_011539822.1:p.Ala2327Val | |
| NM_024408.4:c.7097C>T MANE Select | NP_077719.2:p.Ala2366Val |