Linked Data
ClinVar Variation Id:
2738505
ClinVar RCV Id:
RCV003527278
dbSNP Id:
rs1379280269
gnomAD v3:
5-128300852-G-A
gnomAD v4:
5-128300852-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128300852G>A , CM000667.2:g.128300852G>A | GRCh38 |
| NC_000005.9:g.127636544G>A , CM000667.1:g.127636544G>A | GRCh37 |
| NC_000005.8:g.127664443G>A | NCBI36 |
| NG_008750.1:g.242192C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2915C>T | ||
| ENST00000703785.1:n.2834C>T | ||
| ENST00000262464.9:c.6131C>T MANE Select | ENSP00000262464.4:p.Pro2044Leu | |
| ENST00000262464.8:c.6131C>T | ENSP00000262464.4:p.Pro2044Leu | |
| ENST00000508053.5:c.6131C>T | ENSP00000424571.1:p.Pro2044Leu | |
| ENST00000619499.4:c.6128C>T | ENSP00000482132.1:p.Pro2043Leu | |
| NM_001999.3:c.6131C>T | NP_001990.2:p.Pro2044Leu | |
| XM_017009228.2:c.5978C>T | XP_016864717.1:p.Pro1993Leu | |
| NM_001999.4:c.6131C>T MANE Select | NP_001990.2:p.Pro2044Leu |