Linked Data
dbSNP Id:
rs137854683
ExAC:
6:31324508 C / G
gnomAD v2:
6-31324508-C-G
gnomAD v3:
6-31356731-C-G
gnomAD v4:
6-31356731-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356731C>G , CM000668.2:g.31356731C>G | GRCh38 |
| NC_000006.11:g.31324508C>G , CM000668.1:g.31324508C>G | GRCh37 |
| NC_000006.10:g.31432487C>G | NCBI36 |
| NG_023187.1:g.5482G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.1773G>C | ||
| ENST00000481849.6:n.1773G>C | ||
| ENST00000497377.6:n.1773G>C | ||
| ENST00000640094.2:c.300G>C | ENSP00000491275.2:p.Glu100Asp | |
| ENST00000696558.1:c.300G>C | ENSP00000512716.1:p.Glu100Asp | |
| ENST00000696559.1:c.300G>C | ENSP00000512717.1:p.Glu100Asp | |
| ENST00000696560.1:c.300G>C | ENSP00000512718.1:p.Glu100Asp | |
| ENST00000696561.1:c.300G>C | ENSP00000512719.1:p.Glu100Asp | |
| ENST00000696562.1:c.300G>C | ENSP00000512720.1:p.Glu100Asp | |
| ENST00000412585.7:c.300G>C MANE Select | ENSP00000399168.2:p.Glu100Asp | |
| ENST00000412585.6:c.300G>C | ENSP00000399168.2:p.Glu100Asp | |
| ENST00000434333.1:c.333G>C | ENSP00000405931.1:p.Glu111Asp | |
| ENST00000474381.1:n.175G>C | ||
| ENST00000498007.1:n.321G>C | ||
| ENST00000603274.1:n.85C>G | ||
| NM_005514.6:c.300G>C | NP_005505.2:p.Glu100Asp | |
| XM_011514556.1:c.333G>C | XP_011512858.1:p.Glu111Asp | |
| XM_011514557.1:c.300G>C | XP_011512859.1:p.Glu100Asp | |
| XR_926175.1:n.310G>C | ||
| NM_005514.7:c.300G>C | NP_005505.2:p.Glu100Asp | |
| NM_005514.8:c.300G>C MANE Select | NP_005505.2:p.Glu100Asp |