Linked Data
ClinVar Variation Id:
473106
dbSNP Id:
rs200906172
ExAC:
8:133673857 A / C
gnomAD v2:
8-133673857-A-C
gnomAD v3:
8-132661611-A-C
gnomAD v4:
8-132661611-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132661611A>C , CM000670.2:g.132661611A>C | GRCh38 |
| NC_000008.10:g.133673857A>C , CM000670.1:g.133673857A>C | GRCh37 |
| NC_000008.9:g.133743039A>C | NCBI36 |
| NG_033068.1:g.19007T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.27T>G MANE Select | ENSP00000484634.1:p.Ile9Met | |
| ENST00000250173.5:c.27T>G | ENSP00000250173.2:p.Ile9Met | |
| ENST00000518101.1:n.114T>G | ||
| ENST00000518642.5:c.27T>G | ENSP00000428610.1:p.Ile9Met | |
| ENST00000519595.5:c.27T>G | ENSP00000429791.1:p.Ile9Met | |
| ENST00000520446.5:n.126T>G | ||
| ENST00000521430.5:n.269T>G | ||
| ENST00000522584.5:c.27T>G | ENSP00000429811.1:p.Ile9Met | |
| ENST00000523503.1:n.242+13707T>G | ||
| ENST00000618342.1:c.27T>G | ENSP00000484802.1:p.Ile9Met | |
| ENST00000620350.4:c.27T>G | ENSP00000484634.1:p.Ile9Met | |
| NM_012472.4:c.27T>G | NP_036604.2:p.Ile9Met | |
| NR_073525.1:n.151T>G | ||
| XM_006716538.2:c.45T>G | XP_006716601.2:p.Ile15Met | |
| XM_011516950.1:c.45T>G | XP_011515252.1:p.Ile15Met | |
| XM_011516951.1:c.45T>G | XP_011515253.1:p.Ile15Met | |
| XM_011516952.1:c.10+13873T>G | XP_011515254.1:n.10+13873T>G | |
| XM_011516953.1:c.-334T>G | XP_011515255.1:n.-334T>G | |
| XR_428377.2:n.170T>G | ||
| NM_001321961.1:c.27T>G | NP_001308890.1:p.Ile9Met | |
| NM_001321962.1:c.10+13873T>G | NP_001308891.1:n.10+13873T>G | |
| NM_001321963.1:c.-334T>G | NP_001308892.1:n.-334T>G | |
| NM_001321964.1:c.-334T>G | NP_001308893.1:n.-334T>G | |
| NM_001321965.1:c.-647T>G | NP_001308894.1:n.-647T>G | |
| NM_001321966.1:c.-334T>G | NP_001308895.1:n.-334T>G | |
| NM_012472.5:c.27T>G | NP_036604.2:p.Ile9Met | |
| NR_073525.2:n.151T>G | ||
| NR_135905.1:n.151T>G | ||
| NR_135906.1:n.134+13873T>G | ||
| NR_135907.1:n.151T>G | ||
| NR_135908.1:n.134+13873T>G | ||
| NR_135909.1:n.269T>G | ||
| NR_135910.1:n.576T>G | ||
| NR_135911.1:n.884+12947T>G | ||
| NR_135912.1:n.901T>G | ||
| NR_135913.1:n.901T>G | ||
| XM_006716538.3:c.45T>G | XP_006716601.2:p.Ile15Met | |
| XM_011516950.2:c.45T>G | XP_011515252.1:p.Ile15Met | |
| XM_017013297.1:c.-334T>G | XP_016868786.1:n.-334T>G | |
| XM_017013298.1:c.-438T>G | XP_016868787.1:n.-438T>G | |
| NM_012472.6:c.27T>G MANE Select | NP_036604.2:p.Ile9Met | |
| NM_001321961.2:c.27T>G | NP_001308890.1:p.Ile9Met | |
| NM_001321962.2:c.10+13873T>G | NP_001308891.1:n.10+13873T>G | |
| NM_001321963.2:c.-334T>G | NP_001308892.1:n.-334T>G | |
| NM_001321964.2:c.-334T>G | NP_001308893.1:n.-334T>G | |
| NM_001321965.2:c.-647T>G | NP_001308894.1:n.-647T>G | |
| NM_001321966.2:c.-334T>G | NP_001308895.1:n.-334T>G | |
| NR_073525.3:n.79T>G | ||
| NR_135905.2:n.79T>G | ||
| NR_135906.2:n.62+13873T>G | ||
| NR_135907.2:n.79T>G | ||
| NR_135908.2:n.62+13873T>G | ||
| NR_135909.2:n.289T>G | ||
| NR_135910.2:n.639T>G | ||
| NR_135911.2:n.988+12947T>G | ||
| NR_135912.2:n.1005T>G | ||
| NR_135913.2:n.1005T>G |