Linked Data
ClinVar Variation Id:
1691930
ClinVar RCV Id:
RCV002258417
dbSNP Id:
rs1417824608
gnomAD v2:
11-22646545-G-A
gnomAD v3:
11-22624999-G-A
gnomAD v4:
11-22624999-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22624999G>A , CM000673.2:g.22624999G>A | GRCh38 |
| NC_000011.9:g.22646545G>A , CM000673.1:g.22646545G>A | GRCh37 |
| NC_000011.8:g.22603121G>A | NCBI36 |
| NG_007425.1:g.5843C>T , LRG_527:g.5843C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.812C>T MANE Select | ENSP00000330875.3:p.Ser271Phe | |
| ENST00000327470.4:c.812C>T | ENSP00000330875.3:p.Ser271Phe | |
| NM_022725.3:c.812C>T , LRG_527t1:c.812C>T | NP_073562.1:p.Ser271Phe | |
| NM_022725.4:c.812C>T MANE Select | NP_073562.1:p.Ser271Phe |