Linked Data
ClinVar Variation Id:
544263
dbSNP Id:
rs1262796024
gnomAD v3:
19-1401438-G-T
gnomAD v4:
19-1401438-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401438G>T , CM000681.2:g.1401438G>T | GRCh38 |
| NC_000019.9:g.1401437G>T , CM000681.1:g.1401437G>T | GRCh37 |
| NC_000019.8:g.1352437G>T | NCBI36 |
| NG_009785.1:g.5116C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.39C>A MANE Select | ENSP00000252288.1:p.Gly13= | |
| ENST00000447102.8:c.39C>A | ENSP00000403536.2:p.Gly13= | |
| ENST00000640762.1:c.39C>A | ENSP00000492031.1:p.Gly13= | |
| ENST00000252288.6:c.39C>A | ENSP00000252288.1:p.Gly13= | |
| ENST00000447102.7:c.39C>A | ENSP00000403536.2:p.Gly13= | |
| NM_000156.5:c.39C>A | NP_000147.1:p.Gly13= | |
| NM_138924.2:c.39C>A | NP_620279.1:p.Gly13= | |
| NM_000156.6:c.39C>A MANE Select | NP_000147.1:p.Gly13= | |
| NM_138924.3:c.39C>A | NP_620279.1:p.Gly13= |