Linked Data
ClinVar Variation Id:
411819
dbSNP Id:
rs772041342
ExAC:
5:127674693 G / A
gnomAD v2:
5-127674693-G-A
gnomAD v3:
5-128339001-G-A
gnomAD v4:
5-128339001-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128339001G>A , CM000667.2:g.128339001G>A | GRCh38 |
| NC_000005.9:g.127674693G>A , CM000667.1:g.127674693G>A | GRCh37 |
| NC_000005.8:g.127702592G>A | NCBI36 |
| NG_008750.1:g.204043C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.188C>T | ||
| ENST00000703785.1:n.269C>T | ||
| ENST00000262464.9:c.3404C>T MANE Select | ENSP00000262464.4:p.Pro1135Leu | |
| ENST00000262464.8:c.3404C>T | ENSP00000262464.4:p.Pro1135Leu | |
| ENST00000507835.5:c.-47C>T | ENSP00000426839.1:n.-47C>T | |
| ENST00000508053.5:c.3404C>T | ENSP00000424571.1:p.Pro1135Leu | |
| ENST00000508989.5:c.3305C>T | ENSP00000425596.1:p.Pro1102Leu | |
| ENST00000619499.4:c.3401C>T | ENSP00000482132.1:p.Pro1134Leu | |
| NM_001999.3:c.3404C>T | NP_001990.2:p.Pro1135Leu | |
| XM_017009228.2:c.3251C>T | XP_016864717.1:p.Pro1084Leu | |
| NM_001999.4:c.3404C>T MANE Select | NP_001990.2:p.Pro1135Leu |