Linked Data
dbSNP Id:
rs776634910
ExAC:
19:10226211 A / G
gnomAD v2:
19-10226211-A-G
gnomAD v4:
19-10115535-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115535A>G , CM000681.2:g.10115535A>G | GRCh38 |
| NC_000019.9:g.10226211A>G , CM000681.1:g.10226211A>G | GRCh37 |
| NC_000019.8:g.10087211A>G | NCBI36 |
| NG_047007.1:g.9015A>G | |
| NG_051197.1:g.9390T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.891T>C MANE Select | ENSP00000253108.3:p.Ile297= | |
| ENST00000253108.8:c.891T>C | ENSP00000253108.3:p.Ile297= | |
| ENST00000589454.5:c.867T>C | ENSP00000466860.1:p.Ile289= | |
| ENST00000590158.1:n.910T>C | ||
| ENST00000593054.5:c.285T>C | ENSP00000467187.1:p.Ile95= | |
| NM_003755.3:c.891T>C | NP_003746.2:p.Ile297= | |
| NM_003755.4:c.891T>C | NP_003746.2:p.Ile297= | |
| NM_003755.5:c.891T>C MANE Select | NP_003746.2:p.Ile297= |