Linked Data
dbSNP Id:
rs745837691
ExAC:
6:53371711 C / G
gnomAD v2:
6-53371711-C-G
gnomAD v4:
6-53506913-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53506913C>G , CM000668.2:g.53506913C>G | GRCh38 |
| NC_000006.11:g.53371711C>G , CM000668.1:g.53371711C>G | GRCh37 |
| NC_000006.10:g.53479670C>G | NCBI36 |
| NG_012071.1:g.43121G>C | |
| NG_012071.2:g.43217G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513939.6:c.1083G>C | ENSP00000424211.2:p.Glu361Asp | |
| ENST00000616923.5:c.1038G>C | ENSP00000482756.2:p.Glu346Asp | |
| ENST00000643939.1:c.1203G>C | ENSP00000495686.1:p.Glu401Asp | |
| ENST00000650454.1:c.1197G>C MANE Select | ENSP00000497574.1:p.Glu399Asp | |
| ENST00000229416.10:c.1197G>C | ENSP00000229416.6:p.Glu399Asp | |
| ENST00000504353.1:n.166G>C | ||
| ENST00000509541.5:n.1642G>C | ||
| ENST00000616923.4:c.1083G>C | ENSP00000482756.1:p.Glu361Asp | |
| NM_001197115.1:c.1083G>C | NP_001184044.1:p.Glu361Asp | |
| NM_001498.3:c.1197G>C | NP_001489.1:p.Glu399Asp | |
| NM_001498.4:c.1197G>C MANE Select | NP_001489.1:p.Glu399Asp | |
| XM_017010749.1:c.486G>C | XP_016866238.1:p.Glu162Asp | |
| NM_001197115.2:c.1083G>C | NP_001184044.1:p.Glu361Asp |