Linked Data
dbSNP Id:
rs757433657
ExAC:
11:19206499 C / G
gnomAD v2:
11-19206499-C-G
gnomAD v3:
11-19184952-C-G
gnomAD v4:
11-19184952-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.19184952C>G , CM000673.2:g.19184952C>G | GRCh38 |
| NC_000011.9:g.19206499C>G , CM000673.1:g.19206499C>G | GRCh37 |
| NC_000011.8:g.19163075C>G | NCBI36 |
| NG_011932.2:g.30622G>C , LRG_440:g.30622G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265968.9:c.508G>C MANE Select | ENSP00000265968.3:p.Val170Leu | |
| ENST00000533783.2:c.508G>C | ENSP00000431813.1:p.Val170Leu | |
| ENST00000647990.1:c.375G>C | ENSP00000496798.1:p.Lys125Asn | |
| ENST00000648719.1:c.*26G>C | ENSP00000497633.1:n.*26G>C | |
| ENST00000649235.1:c.508G>C | ENSP00000497388.1:p.Val170Leu | |
| ENST00000649842.1:c.339G>C | ENSP00000497531.1:p.Lys113Asn | |
| ENST00000265968.7:c.508G>C | ENSP00000265968.3:p.Val170Leu | |
| ENST00000533783.1:c.508G>C | ENSP00000431813.1:p.Val170Leu | |
| NM_003476.4:c.508G>C | NP_003467.1:p.Val170Leu | |
| XM_024448698.1:c.339G>C | XP_024304466.1:p.Lys113Asn | |
| NM_001369404.1:c.339G>C | NP_001356333.1:p.Lys113Asn | |
| NM_003476.5:c.508G>C MANE Select | NP_003467.1:p.Val170Leu |