Linked Data
ClinVar Variation Id:
292789
dbSNP Id:
rs193215070
ExAC:
1:155112468 G / T
gnomAD v2:
1-155112468-G-T
gnomAD v3:
1-155139992-G-T
gnomAD v4:
1-155139992-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155139992G>T , CM000663.2:g.155139992G>T | GRCh38 |
| NC_000001.10:g.155112468G>T , CM000663.1:g.155112468G>T | GRCh37 |
| NC_000001.9:g.153379092G>T | NCBI36 |
| NG_012871.1:g.5529C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368400.5:c.249C>A MANE Select | ENSP00000357385.5:p.Ala83= | |
| ENST00000341298.3:c.249C>A | ENSP00000344338.3:p.Ala83= | |
| ENST00000368399.1:c.339C>A | ENSP00000357384.1:p.Ala113= | |
| ENST00000368400.4:c.249C>A | ENSP00000357385.4:p.Ala83= | |
| NM_018973.3:c.339C>A | NP_061846.2:p.Ala113= | |
| NM_153741.1:c.249C>A | NP_714963.1:p.Ala83= | |
| XM_017001498.1:c.249C>A | XP_016856987.1:p.Ala83= | |
| NM_153741.2:c.249C>A MANE Select | NP_714963.1:p.Ala83= | |
| NM_018973.4:c.339C>A | NP_061846.2:p.Ala113= |