Linked Data
ClinVar Variation Id:
1056849
dbSNP Id:
rs771823743
ExAC:
11:65487258 T / C
gnomAD v2:
11-65487258-T-C
gnomAD v4:
11-65719787-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65719787T>C , CM000673.2:g.65719787T>C | GRCh38 |
| NC_000011.9:g.65487258T>C , CM000673.1:g.65487258T>C | GRCh37 |
| NC_000011.8:g.65243834T>C | NCBI36 |
| NG_008976.2:g.6152A>G , LRG_280:g.6152A>G | |
| NG_033057.1:g.12786T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308418.10:c.491A>G MANE Select | ENSP00000308193.5:p.Asp164Gly | |
| ENST00000528220.2:n.720A>G | ||
| ENST00000531596.6:c.491A>G | ENSP00000435717.2:p.Asp164Gly | |
| ENST00000534482.6:c.491A>G | ENSP00000432081.2:p.Asp164Gly | |
| ENST00000642430.1:n.384A>G | ||
| ENST00000643214.1:n.565A>G | ||
| ENST00000644142.1:c.491A>G | ENSP00000493695.1:p.Asp164Gly | |
| ENST00000644198.1:n.388A>G | ||
| ENST00000646597.1:n.428A>G | ||
| ENST00000308418.8:c.491A>G | ENSP00000308193.4:p.Asp164Gly | |
| ENST00000527610.1:c.726A>G | ENSP00000432897.1:p.Gly242= | |
| ENST00000528220.1:c.242A>G | ENSP00000431555.1:p.Asp81Gly | |
| ENST00000531596.5:c.472A>G | ||
| ENST00000533698.5:c.370A>G | ||
| ENST00000534482.5:c.385A>G | ||
| NM_032193.3:c.491A>G , LRG_280t1:c.491A>G | NP_115569.2:p.Asp164Gly | |
| NM_032193.4:c.491A>G MANE Select | NP_115569.2:p.Asp164Gly |