Linked Data
ClinVar Variation Id:
516265
ClinVar RCV Id:
RCV000612307
dbSNP Id:
rs1285352804
gnomAD v2:
14-29236820-C-T
gnomAD v3:
14-28767614-C-T
gnomAD v4:
14-28767614-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767614C>T , CM000676.2:g.28767614C>T | GRCh38 |
| NC_000014.8:g.29236820C>T , CM000676.1:g.29236820C>T | GRCh37 |
| NC_000014.7:g.28306571C>T | NCBI36 |
| NG_009367.1:g.5534C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.335C>T | ENSP00000516406.1:p.Pro112Leu | |
| ENST00000313071.7:c.335C>T MANE Select | ENSP00000339004.3:p.Pro112Leu | |
| ENST00000313071.6:c.335C>T | ENSP00000339004.3:p.Pro112Leu | |
| NM_005249.4:c.335C>T | NP_005240.3:p.Pro112Leu | |
| NM_005249.5:c.335C>T MANE Select | NP_005240.3:p.Pro112Leu |