Linked Data
ClinVar Variation Id:
919195
dbSNP Id:
rs373858715
gnomAD v2:
2-189858966-G-C
gnomAD v3:
2-188994240-G-C
gnomAD v4:
2-188994240-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188994240G>C , CM000664.2:g.188994240G>C | GRCh38 |
| NC_000002.11:g.189858966G>C , CM000664.1:g.189858966G>C | GRCh37 |
| NC_000002.10:g.189567211G>C | NCBI36 |
| NG_007404.1:g.24868G>C , LRG_3:g.24868G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1102G>C | ENSP00000415346.2:p.Ala368Pro | |
| ENST00000304636.9:c.1201G>C MANE Select | ENSP00000304408.4:p.Ala401Pro | |
| ENST00000304636.7:c.1201G>C | ENSP00000304408.3:p.Ala401Pro | |
| ENST00000317840.9:c.1201G>C | ENSP00000315243.6:p.Ala401Pro | |
| ENST00000450867.1:c.200G>C | ||
| NM_000090.3:c.1201G>C , LRG_3t1:c.1201G>C | NP_000081.1:p.Ala401Pro | |
| NM_000090.4:c.1201G>C MANE Select | NP_000081.2:p.Ala401Pro |