Linked Data
ClinVar Variation Id:
130073
dbSNP Id:
rs576411922
ExAC:
1:220375655 T / C
gnomAD v2:
1-220375655-T-C
gnomAD v3:
1-220202313-T-C
gnomAD v4:
1-220202313-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220202313T>C , CM000663.2:g.220202313T>C | GRCh38 |
| NC_000001.10:g.220375655T>C , CM000663.1:g.220375655T>C | GRCh37 |
| NC_000001.9:g.218442278T>C | NCBI36 |
| NG_015837.1:g.75189A>G | |
| NG_015837.2:g.75189A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685286.1:c.774A>G | ENSP00000509457.1:p.Leu258= | |
| ENST00000685664.1:c.774A>G | ENSP00000509121.1:p.Leu258= | |
| ENST00000686381.1:c.510A>G | ENSP00000509555.1:p.Leu170= | |
| ENST00000687065.1:c.510A>G | ENSP00000510408.1:p.Leu170= | |
| ENST00000687394.1:n.880A>G | ||
| ENST00000687647.1:c.510A>G | ENSP00000509205.1:p.Leu170= | |
| ENST00000688035.1:n.1189A>G | ||
| ENST00000689820.1:c.774A>G | ENSP00000509387.1:p.Leu258= | |
| ENST00000690315.1:c.712+3594A>G | ENSP00000509834.1:n.712+3594A>G | |
| ENST00000690373.1:n.1113A>G | ||
| ENST00000690379.1:n.804A>G | ||
| ENST00000690824.1:c.774A>G | ENSP00000510709.1:p.Leu258= | |
| ENST00000691661.1:c.786A>G | ENSP00000510185.1:p.Leu262= | |
| ENST00000691862.1:c.672A>G | ENSP00000509291.1:p.Leu224= | |
| ENST00000692813.1:c.774A>G | ENSP00000509080.1:p.Leu258= | |
| ENST00000692972.1:c.774A>G | ENSP00000510753.1:p.Leu258= | |
| ENST00000693602.1:n.867A>G | ||
| ENST00000358951.7:c.774A>G MANE Select | ENSP00000351832.2:p.Leu258= | |
| ENST00000237724.9:n.569A>G | ||
| ENST00000358951.6:c.774A>G | ENSP00000351832.2:p.Leu258= | |
| ENST00000478976.1:n.292-11888A>G | ||
| ENST00000484658.1:c.478A>G | ||
| NM_012414.3:c.774A>G | NP_036546.2:p.Leu258= | |
| NM_012414.4:c.774A>G MANE Select | NP_036546.2:p.Leu258= |