Linked Data
ClinVar Variation Id:
457667
dbSNP Id:
rs1264981144
gnomAD v2:
17-29562698-A-G
gnomAD v4:
17-31235680-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31235680A>G , CM000679.2:g.31235680A>G | GRCh38 |
| NC_000017.10:g.29562698A>G , CM000679.1:g.29562698A>G | GRCh37 |
| NC_000017.9:g.26586824A>G | NCBI36 |
| NG_009018.1:g.145704A>G , LRG_214:g.145704A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.3823A>G | ENSP00000512431.1:p.Met1275Val | |
| ENST00000696139.1:c.1123A>G | ENSP00000512432.1:p.Met375Val | |
| ENST00000687863.1:n.486A>G | ||
| ENST00000691014.1:c.3808A>G | ENSP00000510595.1:p.Met1270Val | |
| ENST00000358273.9:c.3778A>G MANE Select | ENSP00000351015.4:p.Met1260Val | |
| ENST00000356175.7:c.3778A>G | ENSP00000348498.3:p.Met1260Val | |
| ENST00000358273.8:c.3778A>G | ENSP00000351015.4:p.Met1260Val | |
| ENST00000456735.6:c.2776A>G | ENSP00000389907.2:p.Met926Val | |
| ENST00000466819.5:c.254A>G | ||
| ENST00000479614.1:c.254A>G | ||
| ENST00000493220.5:n.2314A>G | ||
| ENST00000495910.6:c.3553A>G | ||
| ENST00000579081.5:c.3880A>G | ENSP00000462408.1:p.Met1294Val | |
| NM_000267.3:c.3778A>G , LRG_214t1:c.3778A>G | NP_000258.1:p.Met1260Val | |
| NM_001042492.2:c.3778A>G , LRG_214t2:c.3778A>G | NP_001035957.1:p.Met1260Val | |
| XM_005257983.1:c.3778A>G | XP_005258040.1:p.Met1260Val | |
| XM_005257984.1:c.3778A>G | XP_005258041.1:p.Met1260Val | |
| XM_006721922.1:c.3808A>G | XP_006721985.1:p.Met1270Val | |
| XM_006721923.2:c.3769A>G | XP_006721986.1:p.Met1257Val | |
| XM_006721924.1:c.3808A>G | XP_006721987.1:p.Met1270Val | |
| XM_006721925.1:c.3808A>G | XP_006721988.1:p.Met1270Val | |
| XM_006721926.2:c.3808A>G | XP_006721989.1:p.Met1270Val | |
| XM_006721927.1:c.3808A>G | XP_006721990.1:p.Met1270Val | |
| XM_006721928.2:c.3808A>G | XP_006721991.1:p.Met1270Val | |
| XM_011524852.1:c.3805A>G | XP_011523154.1:p.Met1269Val | |
| XM_011524853.1:c.3769A>G | XP_011523155.1:p.Met1257Val | |
| XM_011524854.1:c.3769A>G | XP_011523156.1:p.Met1257Val | |
| XM_011524855.1:c.3769A>G | XP_011523157.1:p.Met1257Val | |
| XM_011524856.1:c.3769A>G | XP_011523158.1:p.Met1257Val | |
| XM_011524857.1:c.3808A>G | XP_011523159.1:p.Met1270Val | |
| NM_001042492.3:c.3778A>G MANE Select | NP_001035957.1:p.Met1260Val |