Linked Data
ClinVar Variation Id:
161855
ClinVar RCV Id:
RCV000149391
dbSNP Id:
rs193920803
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.28129326A>G , CM000664.2:g.28129326A>G | GRCh38 |
| NC_000002.11:g.28352193A>G , CM000664.1:g.28352193A>G | GRCh37 |
| NC_000002.10:g.28205697A>G | NCBI36 |
| NG_051044.1:g.245618A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379624.6:c.626A>G MANE Select | ENSP00000368945.1:p.Asp209Gly | |
| ENST00000342045.6:c.626A>G | ENSP00000339371.2:p.Asp209Gly | |
| ENST00000344773.6:c.626A>G | ENSP00000343412.2:p.Asp209Gly | |
| ENST00000361704.6:c.626A>G | ENSP00000354699.2:p.Asp209Gly | |
| ENST00000379624.5:c.626A>G | ENSP00000368945.1:p.Asp209Gly | |
| ENST00000379629.7:c.626A>G | ENSP00000368950.3:p.Asp209Gly | |
| ENST00000379632.6:c.626A>G | ENSP00000368953.2:p.Asp209Gly | |
| NM_001261840.1:c.626A>G | NP_001248769.1:p.Asp209Gly | |
| NM_004899.4:c.626A>G | NP_004890.2:p.Asp209Gly | |
| NM_199191.2:c.626A>G | NP_954661.1:p.Asp209Gly | |
| NM_199192.2:c.626A>G | NP_954662.1:p.Asp209Gly | |
| NM_199193.2:c.626A>G | NP_954663.1:p.Asp209Gly | |
| NM_199194.2:c.626A>G | NP_954664.1:p.Asp209Gly | |
| NM_001329112.1:c.626A>G | NP_001316041.1:p.Asp209Gly | |
| NM_001329113.1:c.626A>G | NP_001316042.1:p.Asp209Gly | |
| NM_001329114.1:c.626A>G | NP_001316043.1:p.Asp209Gly | |
| NM_001329115.1:c.626A>G | NP_001316044.1:p.Asp209Gly | |
| NR_137437.1:n.878A>G | ||
| NR_137438.1:n.878A>G | ||
| NR_137439.1:n.878A>G | ||
| NR_137440.1:n.878A>G | ||
| NM_001261840.2:c.626A>G | NP_001248769.1:p.Asp209Gly | |
| NM_001329113.2:c.626A>G | NP_001316042.1:p.Asp209Gly | |
| NM_001329114.2:c.626A>G | NP_001316043.1:p.Asp209Gly | |
| NM_001329115.2:c.626A>G | NP_001316044.1:p.Asp209Gly | |
| NM_004899.5:c.626A>G | NP_004890.2:p.Asp209Gly | |
| NM_199191.3:c.626A>G MANE Select | NP_954661.1:p.Asp209Gly | |
| NM_199192.3:c.626A>G | NP_954662.1:p.Asp209Gly | |
| NM_199193.3:c.626A>G | NP_954663.1:p.Asp209Gly | |
| NM_199194.3:c.626A>G | NP_954664.1:p.Asp209Gly | |
| NR_137437.2:n.764A>G | ||
| NR_137438.2:n.764A>G | ||
| NR_137439.2:n.764A>G | ||
| NR_137440.2:n.764A>G |