Linked Data
ClinVar Variation Id:
718
ClinVar RCV Id:
RCV000000754
dbSNP Id:
rs79020217
PubMed:
PMID:18622393
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29672739G>C , CM000668.2:g.29672739G>C | GRCh38 |
| NC_000006.11:g.29640516G>C , CM000668.1:g.29640516G>C | GRCh37 |
| NC_000006.10:g.29748495G>C | NCBI36 |
| NG_013045.1:g.9416C>G | |
| NG_031873.1:g.20759G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376883.2:c.1372C>G MANE Select | ENSP00000366080.2:p.His458Asp | |
| ENST00000488757.6:c.1156C>G | ENSP00000418259.2:p.His386Asp | |
| ENST00000376881.4:c.1120C>G | ENSP00000366078.4:p.His374Asp | |
| ENST00000376883.1:c.1312C>G | ENSP00000366080.1:p.His438Asp | |
| ENST00000488757.5:c.1372C>G | ENSP00000418259.1:p.His458Asp | |
| NM_001109809.2:c.1372C>G | NP_001103279.2:p.His458Asp | |
| XM_006715087.2:c.1156C>G | XP_006715150.1:p.His386Asp | |
| XM_011514570.1:c.1372C>G | XP_011512872.1:p.His458Asp | |
| NM_001109809.3:c.1372C>G | NP_001103279.2:p.His458Asp | |
| NM_001366333.1:c.1156C>G | NP_001353262.1:p.His386Asp | |
| NM_001109809.4:c.1372C>G | NP_001103279.2:p.His458Asp | |
| NM_001366333.2:c.1156C>G | NP_001353262.1:p.His386Asp | |
| NM_001109809.5:c.1372C>G MANE Select | NP_001103279.2:p.His458Asp |