Linked Data
dbSNP Id:
rs782353104
ExAC:
10:48385881 T / C
gnomAD v2:
10-48385881-T-C
gnomAD v4:
10-47353481-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47353481A>G , CM000672.2:g.47353481A>G | GRCh38 |
| NC_000010.10:g.48385881T>C , CM000672.1:g.48385881T>C | GRCh37 |
| NC_000010.9:g.48005887T>C | NCBI36 |
| NG_029718.1:g.10111A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.3211A>G MANE Select | ENSP00000463151.1:p.Ile1071Val | |
| ENST00000584701.1:c.3211A>G | ENSP00000463151.1:p.Ile1071Val | |
| NM_002900.2:c.3211A>G | NP_002891.1:p.Ile1071Val | |
| NM_002900.3:c.3211A>G MANE Select | NP_002891.1:p.Ile1071Val |