Linked Data
ClinVar Variation Id:
263878
dbSNP Id:
rs137908708
ExAC:
3:30713828 A / G
gnomAD v2:
3-30713828-A-G
gnomAD v3:
3-30672336-A-G
gnomAD v4:
3-30672336-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672336A>G , CM000665.2:g.30672336A>G | GRCh38 |
| NC_000003.11:g.30713828A>G , CM000665.1:g.30713828A>G | GRCh37 |
| NC_000003.10:g.30688832A>G | NCBI36 |
| NG_007490.1:g.70835A>G , LRG_779:g.70835A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1153A>G MANE Select | ENSP00000295754.5:p.Ile385Val | |
| ENST00000672866.1:n.2749A>G | ||
| ENST00000295754.9:c.1153A>G | ENSP00000295754.5:p.Ile385Val | |
| ENST00000359013.4:c.1228A>G | ENSP00000351905.4:p.Ile410Val | |
| NM_001024847.2:c.1228A>G , LRG_779t1:c.1228A>G | NP_001020018.1:p.Ile410Val | |
| NM_003242.5:c.1153A>G | NP_003233.4:p.Ile385Val | |
| XM_011534043.1:c.1180A>G | XP_011532345.1:p.Ile394Val | |
| XM_011534044.1:c.1105A>G | XP_011532346.1:p.Ile369Val | |
| XM_011534045.1:c.1048A>G | XP_011532347.1:p.Ile350Val | |
| XM_011534043.2:c.1180A>G | XP_011532345.1:p.Ile394Val | |
| XM_011534045.3:c.1048A>G | XP_011532347.1:p.Ile350Val | |
| XM_017007106.1:c.1048A>G | XP_016862595.1:p.Ile350Val | |
| NM_003242.6:c.1153A>G MANE Select | NP_003233.4:p.Ile385Val |