Linked Data
dbSNP Id:
rs778002422
ExAC:
6:150001321 G / C
gnomAD v2:
6-150001321-G-C
gnomAD v3:
6-149680185-G-C
gnomAD v4:
6-149680185-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149680185G>C , CM000668.2:g.149680185G>C | GRCh38 |
| NC_000006.11:g.150001321G>C , CM000668.1:g.150001321G>C | GRCh37 |
| NC_000006.10:g.150043014G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543571.6:c.2283C>G MANE Select | ENSP00000437550.1:p.Asp761Glu | |
| ENST00000253339.9:c.2283C>G | ENSP00000253339.5:p.Asp761Glu | |
| ENST00000441107.5:c.*1970C>G | ENSP00000403815.1:n.*1970C>G | |
| ENST00000542747.5:n.2120C>G | ||
| ENST00000543571.5:c.2283C>G | ENSP00000437550.1:p.Asp761Glu | |
| NM_004690.3:c.2283C>G | NP_004681.1:p.Asp761Glu | |
| NR_073033.1:n.2737C>G | ||
| XM_006715603.2:c.2283C>G | XP_006715666.1:p.Asp761Glu | |
| XM_011536250.1:c.2283C>G | XP_011534552.1:p.Asp761Glu | |
| XM_011536251.1:c.1968C>G | XP_011534553.1:p.Asp656Glu | |
| XM_011536252.1:c.2283C>G | XP_011534554.1:p.Asp761Glu | |
| NM_001350339.1:c.1968C>G | NP_001337268.1:p.Asp656Glu | |
| NM_001350340.1:c.1968C>G | NP_001337269.1:p.Asp656Glu | |
| NM_001350392.1:c.1443C>G | NP_001337321.1:p.Asp481Glu | |
| XM_006715603.3:c.2283C>G | XP_006715666.1:p.Asp761Glu | |
| XM_011536252.2:c.2283C>G | XP_011534554.1:p.Asp761Glu | |
| XM_017011474.1:c.2283C>G | XP_016866963.1:p.Asp761Glu | |
| XM_017011477.1:c.2283C>G | XP_016866966.1:p.Asp761Glu | |
| XM_017011479.1:c.2283C>G | XP_016866968.1:p.Asp761Glu | |
| XM_017011480.1:c.1443C>G | XP_016866969.1:p.Asp481Glu | |
| XM_024446583.1:c.2283C>G | XP_024302351.1:p.Asp761Glu | |
| NM_004690.4:c.2283C>G MANE Select | NP_004681.1:p.Asp761Glu | |
| NM_001350339.2:c.1968C>G | NP_001337268.1:p.Asp656Glu | |
| NM_001350340.2:c.1968C>G | NP_001337269.1:p.Asp656Glu | |
| NM_001350392.2:c.1443C>G | NP_001337321.1:p.Asp481Glu | |
| NR_073033.2:n.2737C>G |