Linked Data
dbSNP Id:
rs772930898
ExAC:
6:24291235 A / G
gnomAD v3:
6-24291007-A-G
gnomAD v4:
6-24291007-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24291007A>G , CM000668.2:g.24291007A>G | GRCh38 |
| NC_000006.11:g.24291235A>G , CM000668.1:g.24291235A>G | GRCh37 |
| NC_000006.10:g.24399214A>G | NCBI36 |
| NG_012829.1:g.72046T>C | |
| NG_012829.2:g.97286T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378454.8:c.629T>C MANE Select | ENSP00000367715.3:p.Val210Ala | |
| ENST00000378454.7:c.629T>C | ENSP00000367715.3:p.Val210Ala | |
| NM_001195610.1:c.629T>C | NP_001182539.1:p.Val210Ala | |
| NM_016356.4:c.629T>C | NP_057440.2:p.Val210Ala | |
| NM_016356.5:c.629T>C MANE Select | NP_057440.2:p.Val210Ala | |
| NM_001195610.2:c.629T>C | NP_001182539.1:p.Val210Ala |