Linked Data
ClinVar Variation Id:
374861
ClinVar RCV Id:
RCV000415571
dbSNP Id:
rs1057519276
PubMed:
PMID:25145517
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73332261G>C , CM000677.2:g.73332261G>C | GRCh38 |
| NC_000015.9:g.73624602G>C , CM000677.1:g.73624602G>C | GRCh37 |
| NC_000015.8:g.71411655G>C | NCBI36 |
| NG_009063.1:g.42004C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.1241C>G MANE Select | ENSP00000261917.3:p.Ala414Gly | |
| ENST00000261917.3:c.1241C>G | ENSP00000261917.3:p.Ala414Gly | |
| NM_005477.2:c.1241C>G | NP_005468.1:p.Ala414Gly | |
| XM_011521148.1:c.23C>G | XP_011519450.1:p.Ala8Gly | |
| XM_011521148.2:c.23C>G | XP_011519450.1:p.Ala8Gly | |
| NM_005477.3:c.1241C>G MANE Select | NP_005468.1:p.Ala414Gly |