Linked Data
ClinVar Variation Id:
2975064
ClinVar RCV Id:
RCV003830670
dbSNP Id:
rs370609551
ExAC:
2:26697400 G / A
gnomAD v2:
2-26697400-G-A
gnomAD v3:
2-26474532-G-A
gnomAD v4:
2-26474532-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26474532G>A , CM000664.2:g.26474532G>A | GRCh38 |
| NC_000002.11:g.26697400G>A , CM000664.1:g.26697400G>A | GRCh37 |
| NC_000002.10:g.26550904G>A | NCBI36 |
| NG_009937.1:g.89167C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.3269C>T MANE Select | ENSP00000272371.2:p.Ala1090Val | |
| ENST00000339598.8:c.1028C>T MANE Plus Clinical | ENSP00000344521.3:p.Ala343Val | |
| ENST00000402415.8:c.1028C>T | ENSP00000383906.4:p.Ala343Val | |
| ENST00000272371.6:c.3269C>T | ENSP00000272371.2:p.Ala1090Val | |
| ENST00000338581.10:c.1028C>T | ENSP00000345137.6:p.Ala343Val | |
| ENST00000339598.7:c.1028C>T | ENSP00000344521.3:p.Ala343Val | |
| ENST00000402415.7:c.1199C>T | ENSP00000383906.3:p.Ala400Val | |
| ENST00000403946.7:c.3269C>T | ENSP00000385255.3:p.Ala1090Val | |
| NM_001287489.1:c.3269C>T | NP_001274418.1:p.Ala1090Val | |
| NM_004802.3:c.1028C>T | NP_004793.2:p.Ala343Val | |
| NM_194248.2:c.3269C>T | NP_919224.1:p.Ala1090Val | |
| NM_194322.2:c.1199C>T | NP_919303.1:p.Ala400Val | |
| NM_194323.2:c.1028C>T | NP_919304.1:p.Ala343Val | |
| XM_005264644.2:c.3314C>T | XP_005264701.1:p.Ala1105Val | |
| XM_011533185.1:c.3314C>T | XP_011531487.1:p.Ala1105Val | |
| XM_017005338.1:c.3269C>T | XP_016860827.1:p.Ala1090Val | |
| NM_001287489.2:c.3269C>T | NP_001274418.1:p.Ala1090Val | |
| NM_004802.4:c.1028C>T | NP_004793.2:p.Ala343Val | |
| NM_194248.3:c.3269C>T MANE Select | NP_919224.1:p.Ala1090Val | |
| NM_194322.3:c.1199C>T | NP_919303.1:p.Ala400Val | |
| NM_194323.3:c.1028C>T MANE Plus Clinical | NP_919304.1:p.Ala343Val |