Linked Data
ClinVar Variation Id:
416910
ClinVar RCV Id:
RCV001500935
dbSNP Id:
rs143905167
gnomAD v2:
5-127693008-C-A
gnomAD v3:
5-128357316-C-A
gnomAD v4:
5-128357316-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128357316C>A , CM000667.2:g.128357316C>A | GRCh38 |
| NC_000005.9:g.127693008C>A , CM000667.1:g.127693008C>A | GRCh37 |
| NC_000005.8:g.127720907C>A | NCBI36 |
| NG_008750.1:g.185728G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262464.9:c.2634G>T MANE Select | ENSP00000262464.4:p.Ser878= | |
| ENST00000262464.8:c.2634G>T | ENSP00000262464.4:p.Ser878= | |
| ENST00000508053.5:c.2634G>T | ENSP00000424571.1:p.Ser878= | |
| ENST00000508989.5:c.2535G>T | ENSP00000425596.1:p.Ser845= | |
| ENST00000619499.4:c.2631G>T | ENSP00000482132.1:p.Ser877= | |
| NM_001999.3:c.2634G>T | NP_001990.2:p.Ser878= | |
| XM_017009228.2:c.2481G>T | XP_016864717.1:p.Ser827= | |
| NM_001999.4:c.2634G>T MANE Select | NP_001990.2:p.Ser878= |