Linked Data
ClinVar Variation Id:
213402
dbSNP Id:
rs200481467
ExAC:
5:127671155 G / A
gnomAD v2:
5-127671155-G-A
gnomAD v3:
5-128335463-G-A
gnomAD v4:
5-128335463-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335463G>A , CM000667.2:g.128335463G>A | GRCh38 |
| NC_000005.9:g.127671155G>A , CM000667.1:g.127671155G>A | GRCh37 |
| NC_000005.8:g.127699054G>A | NCBI36 |
| NG_008750.1:g.207581C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703783.1:n.623C>T | ||
| ENST00000703785.1:n.704C>T | ||
| ENST00000262464.9:c.3839C>T MANE Select | ENSP00000262464.4:p.Ser1280Leu | |
| ENST00000262464.8:c.3839C>T | ENSP00000262464.4:p.Ser1280Leu | |
| ENST00000507835.5:c.389C>T | ENSP00000426839.1:p.Ser130Leu | |
| ENST00000508053.5:c.3839C>T | ENSP00000424571.1:p.Ser1280Leu | |
| ENST00000508989.5:c.3740C>T | ENSP00000425596.1:p.Ser1247Leu | |
| ENST00000619499.4:c.3836C>T | ENSP00000482132.1:p.Ser1279Leu | |
| NM_001999.3:c.3839C>T | NP_001990.2:p.Ser1280Leu | |
| XM_017009228.2:c.3686C>T | XP_016864717.1:p.Ser1229Leu | |
| NM_001999.4:c.3839C>T MANE Select | NP_001990.2:p.Ser1280Leu |