Linked Data
dbSNP Id:
rs1043146569
gnomAD v2:
6-24302226-C-G
gnomAD v3:
6-24301998-C-G
gnomAD v4:
6-24301998-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24301998C>G , CM000668.2:g.24301998C>G | GRCh38 |
| NC_000006.11:g.24302226C>G , CM000668.1:g.24302226C>G | GRCh37 |
| NC_000006.10:g.24410205C>G | NCBI36 |
| NG_012829.1:g.61055G>C | |
| NG_012829.2:g.86295G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.395G>C MANE Select | ENSP00000367715.3:p.Arg132Thr | |
| ENST00000378454.7:c.395G>C | ENSP00000367715.3:p.Arg132Thr | |
| NM_001195610.1:c.395G>C | NP_001182539.1:p.Arg132Thr | |
| NM_016356.4:c.395G>C | NP_057440.2:p.Arg132Thr | |
| NM_016356.5:c.395G>C MANE Select | NP_057440.2:p.Arg132Thr | |
| NM_001195610.2:c.395G>C | NP_001182539.1:p.Arg132Thr |