Linked Data
dbSNP Id:
rs137854752
gnomAD v2:
6-31324049-C-G
gnomAD v3:
6-31356272-C-G
gnomAD v4:
6-31356272-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356272C>G , CM000668.2:g.31356272C>G | GRCh38 |
| NC_000006.11:g.31324049C>G , CM000668.1:g.31324049C>G | GRCh37 |
| NC_000006.10:g.31432028C>G | NCBI36 |
| NG_023187.1:g.5941G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.1987G>C | ||
| ENST00000481849.6:n.1987G>C | ||
| ENST00000497377.6:n.1987G>C | ||
| ENST00000640094.2:c.514G>C | ENSP00000491275.2:p.Glu172Gln | |
| ENST00000696558.1:c.514G>C | ENSP00000512716.1:p.Glu172Gln | |
| ENST00000696559.1:c.514G>C | ENSP00000512717.1:p.Glu172Gln | |
| ENST00000696560.1:c.514G>C | ENSP00000512718.1:p.Glu172Gln | |
| ENST00000696561.1:c.514G>C | ENSP00000512719.1:p.Glu172Gln | |
| ENST00000696562.1:c.514G>C | ENSP00000512720.1:p.Glu172Gln | |
| ENST00000412585.7:c.514G>C MANE Select | ENSP00000399168.2:p.Glu172Gln | |
| ENST00000412585.6:c.514G>C | ENSP00000399168.2:p.Glu172Gln | |
| ENST00000434333.1:c.547G>C | ENSP00000405931.1:p.Glu183Gln | |
| ENST00000474381.1:n.389G>C | ||
| ENST00000498007.1:n.780G>C | ||
| NM_005514.6:c.514G>C | NP_005505.2:p.Glu172Gln | |
| XM_011514556.1:c.547G>C | XP_011512858.1:p.Glu183Gln | |
| XM_011514557.1:c.514G>C | XP_011512859.1:p.Glu172Gln | |
| XR_926175.1:n.524G>C | ||
| NM_005514.7:c.514G>C | NP_005505.2:p.Glu172Gln | |
| NM_005514.8:c.514G>C MANE Select | NP_005505.2:p.Glu172Gln |