Linked Data
dbSNP Id:
rs746983315
ExAC:
5:136974680 T / C
gnomAD v2:
5-136974680-T-C
gnomAD v4:
5-137638991-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137638991T>C , CM000667.2:g.137638991T>C | GRCh38 |
| NC_000005.9:g.136974680T>C , CM000667.1:g.136974680T>C | GRCh37 |
| NC_000005.8:g.137002579T>C | NCBI36 |
| NG_032569.1:g.102100A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.1181A>G MANE Select | ENSP00000312397.4:p.Asp394Gly | |
| ENST00000309755.8:c.1181A>G | ENSP00000312397.4:p.Asp394Gly | |
| ENST00000502381.1:n.768A>G | ||
| ENST00000504208.5:c.*335-10554A>G | ENSP00000423585.1:n.*335-10554A>G | |
| ENST00000505853.1:c.1061A>G | ENSP00000426173.1:p.Asp354Gly | |
| ENST00000506491.5:c.935A>G | ENSP00000424828.1:p.Asp312Gly | |
| ENST00000506873.5:n.806A>G | ||
| ENST00000508657.5:c.1085A>G | ENSP00000422099.1:p.Asp362Gly | |
| NM_001257194.1:c.1085A>G | NP_001244123.1:p.Asp362Gly | |
| NM_001257195.1:c.935A>G | NP_001244124.1:p.Asp312Gly | |
| NM_017415.2:c.1181A>G | NP_059111.2:p.Asp394Gly | |
| NM_017415.3:c.1181A>G MANE Select | NP_059111.2:p.Asp394Gly | |
| NM_001257195.2:c.935A>G | NP_001244124.1:p.Asp312Gly |