Linked Data
dbSNP Id:
rs3206824
ExAC:
11:11986061 T / C
gnomAD v2:
11-11986061-T-C
gnomAD v3:
11-11964514-T-C
gnomAD v4:
11-11964514-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.11964514T>C , CM000673.2:g.11964514T>C | GRCh38 |
| NC_000011.9:g.11986061T>C , CM000673.1:g.11986061T>C | GRCh37 |
| NC_000011.8:g.11942637T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683431.1:c.1003A>G MANE Select | ENSP00000506835.1:p.Arg335Gly | |
| ENST00000396505.7:c.1003A>G | ENSP00000379762.2:p.Arg335Gly | |
| ENST00000326932.8:c.1003A>G | ENSP00000314910.4:p.Arg335Gly | |
| ENST00000396505.6:c.1003A>G | ENSP00000379762.2:p.Arg335Gly | |
| ENST00000525493.5:c.1045A>G | ENSP00000433112.1:p.Arg349Gly | |
| ENST00000527132.1:n.262-45A>G | ||
| NM_001018057.1:c.1003A>G | NP_001018067.1:p.Arg335Gly | |
| NM_013253.4:c.1003A>G | NP_037385.2:p.Arg335Gly | |
| NM_015881.5:c.1003A>G | NP_056965.3:p.Arg335Gly | |
| XM_006718178.2:c.1003A>G | XP_006718241.1:p.Arg335Gly | |
| NM_001330220.1:c.1045A>G | NP_001317149.1:p.Arg349Gly | |
| XM_017017554.2:c.1045A>G | XP_016873043.1:p.Arg349Gly | |
| XM_017017555.1:c.1045A>G | XP_016873044.1:p.Arg349Gly | |
| XM_024448441.1:c.523A>G | XP_024304209.1:p.Arg175Gly | |
| NM_001330220.2:c.1045A>G | NP_001317149.1:p.Arg349Gly | |
| NM_001018057.2:c.1003A>G MANE Select | NP_001018067.1:p.Arg335Gly | |
| NM_001330220.3:c.1045A>G | NP_001317149.1:p.Arg349Gly | |
| NM_013253.5:c.1003A>G | NP_037385.2:p.Arg335Gly | |
| NM_015881.6:c.1003A>G | NP_056965.3:p.Arg335Gly |