Linked Data
ClinVar Variation Id:
287750
dbSNP Id:
rs374821619
ExAC:
1:211654623 C / T
gnomAD v2:
1-211654623-C-T
gnomAD v3:
1-211481281-C-T
gnomAD v4:
1-211481281-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.211481281C>T , CM000663.2:g.211481281C>T | GRCh38 |
| NC_000001.10:g.211654623C>T , CM000663.1:g.211654623C>T | GRCh37 |
| NC_000001.9:g.209721246C>T | NCBI36 |
| NG_013042.1:g.16637G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367002.5:c.135G>A | ENSP00000355969.4:p.Arg45= | |
| ENST00000680073.1:c.135G>A MANE Select | ENSP00000505312.1:p.Arg45= | |
| ENST00000367002.4:c.135G>A | ENSP00000355969.4:p.Arg45= | |
| ENST00000484910.1:n.265-1954G>A | ||
| NM_001164688.1:c.135G>A | NP_001158160.1:p.Arg45= | |
| NM_183059.2:c.135G>A | NP_898882.1:p.Arg45= | |
| XM_011509479.1:c.135G>A | XP_011507781.1:p.Arg45= | |
| XM_017001151.1:c.171G>A | XP_016856640.1:p.Arg57= | |
| NM_183059.3:c.135G>A | NP_898882.1:p.Arg45= | |
| NM_001164688.2:c.135G>A MANE Select | NP_001158160.1:p.Arg45= |