Linked Data
ClinVar Variation Id:
2914857
ClinVar RCV Id:
RCV003642287
dbSNP Id:
rs1297011367
gnomAD v2:
5-127673796-C-A
gnomAD v3:
5-128338104-C-A
gnomAD v4:
5-128338104-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338104C>A , CM000667.2:g.128338104C>A | GRCh38 |
| NC_000005.9:g.127673796C>A , CM000667.1:g.127673796C>A | GRCh37 |
| NC_000005.8:g.127701695C>A | NCBI36 |
| NG_008750.1:g.204940G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.275G>T | ||
| ENST00000703785.1:n.356G>T | ||
| ENST00000262464.9:c.3491G>T MANE Select | ENSP00000262464.4:p.Arg1164Leu | |
| ENST00000262464.8:c.3491G>T | ENSP00000262464.4:p.Arg1164Leu | |
| ENST00000507835.5:c.41G>T | ENSP00000426839.1:p.Arg14Leu | |
| ENST00000508053.5:c.3491G>T | ENSP00000424571.1:p.Arg1164Leu | |
| ENST00000508989.5:c.3392G>T | ENSP00000425596.1:p.Arg1131Leu | |
| ENST00000619499.4:c.3488G>T | ENSP00000482132.1:p.Arg1163Leu | |
| NM_001999.3:c.3491G>T | NP_001990.2:p.Arg1164Leu | |
| XM_017009228.2:c.3338G>T | XP_016864717.1:p.Arg1113Leu | |
| NM_001999.4:c.3491G>T MANE Select | NP_001990.2:p.Arg1164Leu |