Linked Data
dbSNP Id:
rs41560417
ExAC:
6:31323108 A / C
gnomAD v2:
6-31323108-A-C
gnomAD v3:
6-31355331-A-C
gnomAD v4:
6-31355331-A-C
COSMIC:
COSM4160786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355331A>C , CM000668.2:g.31355331A>C | GRCh38 |
| NC_000006.11:g.31323108A>C , CM000668.1:g.31323108A>C | GRCh37 |
| NC_000006.10:g.31431087A>C | NCBI36 |
| NG_023187.1:g.6882T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.2928T>G | ||
| ENST00000481849.6:n.2354T>G | ||
| ENST00000497377.6:n.2354T>G | ||
| ENST00000640094.2:c.881T>G | ENSP00000491275.2:p.Leu294Arg | |
| ENST00000696558.1:c.950T>G | ENSP00000512716.1:n.950T>G | |
| ENST00000696559.1:c.881T>G | ENSP00000512717.1:p.Leu294Arg | |
| ENST00000696560.1:c.881T>G | ENSP00000512718.1:p.Leu294Arg | |
| ENST00000696561.1:c.881T>G | ENSP00000512719.1:p.Leu294Arg | |
| ENST00000696562.1:c.881T>G | ENSP00000512720.1:p.Leu294Arg | |
| ENST00000412585.7:c.881T>G MANE Select | ENSP00000399168.2:p.Leu294Arg | |
| ENST00000640094.1:c.74T>G | ENSP00000491275.1:p.Leu25Arg | |
| ENST00000412585.6:c.881T>G | ENSP00000399168.2:p.Leu294Arg | |
| ENST00000463574.1:n.472T>G | ||
| NM_005514.6:c.881T>G | NP_005505.2:p.Leu294Arg | |
| XM_011514556.1:c.914T>G | XP_011512858.1:p.Leu305Arg | |
| XM_011514557.1:c.881T>G | XP_011512859.1:p.Leu294Arg | |
| XR_926175.1:n.1320T>G | ||
| NM_005514.7:c.881T>G | NP_005505.2:p.Leu294Arg | |
| NM_005514.8:c.881T>G MANE Select | NP_005505.2:p.Leu294Arg |