Linked Data
ClinVar Variation Id:
2903003
ClinVar RCV Id:
RCV003734054
dbSNP Id:
rs1244162531
gnomAD v2:
6-157469997-A-G
gnomAD v4:
6-157148863-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157148863A>G , CM000668.2:g.157148863A>G | GRCh38 |
| NC_000006.11:g.157469997A>G , CM000668.1:g.157469997A>G | GRCh37 |
| NC_000006.10:g.157511689A>G | NCBI36 |
| NG_032093.1:g.375934A>G | |
| NG_032093.2:g.375934A>G | |
| NG_066624.1:g.377838A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350026.11:c.3001A>G | ENSP00000055163.8:p.Met1001Val | |
| ENST00000414678.8:c.2911A>G | ENSP00000412835.3:p.Met971Val | |
| ENST00000637015.2:c.3001A>G | ENSP00000489729.2:p.Met1001Val | |
| ENST00000319584.11:c.1015A>G | ENSP00000313006.7:p.Met339Val | |
| ENST00000346085.10:c.3040A>G | ENSP00000344546.5:p.Met1014Val | |
| ENST00000350026.10:c.2752A>G | ENSP00000055163.7:p.Met918Val | |
| ENST00000414678.7:c.1159A>G | ENSP00000412835.2:p.Met387Val | |
| ENST00000452544.2:n.902A>G | ||
| ENST00000635849.1:c.322A>G | ENSP00000490948.1:p.Met108Val | |
| ENST00000636426.1:n.135A>G | ||
| ENST00000636930.2:c.3001A>G MANE Select | ENSP00000490491.2:p.Met1001Val | |
| ENST00000637015.1:c.240A>G | ||
| ENST00000637568.1:c.44A>G | ||
| ENST00000637810.1:c.502A>G | ENSP00000489636.1:p.Met168Val | |
| ENST00000637904.1:c.502A>G | ENSP00000490550.1:p.Met168Val | |
| ENST00000647938.1:c.2791A>G | ENSP00000498155.1:p.Met931Val | |
| ENST00000674190.1:n.1750A>G | ||
| ENST00000319584.10:c.1018A>G | ENSP00000313006.6:p.Met340Val | |
| ENST00000346085.9:c.2791A>G | ENSP00000344546.4:p.Met931Val | |
| ENST00000350026.9:c.2752A>G | ENSP00000055163.7:p.Met918Val | |
| ENST00000414678.6:c.1159A>G | ENSP00000412835.2:p.Met387Val | |
| ENST00000452544.1:n.848A>G | ||
| ENST00000478761.3:c.74A>G | ||
| NM_017519.2:c.2752A>G | NP_059989.2:p.Met918Val | |
| NM_020732.3:c.2791A>G | NP_065783.3:p.Met931Val | |
| XM_005267069.3:c.2752A>G | XP_005267126.2:p.Met918Val | |
| XM_011535984.1:c.1702A>G | XP_011534286.1:p.Met568Val | |
| XM_011535985.1:c.1522A>G | XP_011534287.1:p.Met508Val | |
| XM_011535986.1:c.1282A>G | XP_011534288.1:p.Met428Val | |
| XM_011535987.1:c.901A>G | XP_011534289.1:p.Met301Val | |
| XM_011535988.1:c.-20+15656A>G | XP_011534290.1:n.-20+15656A>G | |
| NM_001346813.1:c.2752A>G | NP_001333742.1:p.Met918Val | |
| NM_001363725.1:c.502A>G | NP_001350654.1:p.Met168Val | |
| XM_011535984.2:c.2833A>G | XP_011534286.2:p.Met945Val | |
| XM_011535988.3:c.-20+15656A>G | XP_011534290.1:n.-20+15656A>G | |
| XM_017011103.2:c.2833A>G | XP_016866592.1:p.Met945Val | |
| XM_017011104.1:c.2833A>G | XP_016866593.1:p.Met945Val | |
| XM_017011105.2:c.2833A>G | XP_016866594.1:p.Met945Val | |
| XM_017011106.2:c.2833A>G | XP_016866595.1:p.Met945Val | |
| XM_017011107.2:c.2653A>G | XP_016866596.1:p.Met885Val | |
| XR_002956289.1:n.2916A>G | ||
| NM_001363725.2:c.502A>G | NP_001350654.1:p.Met168Val | |
| NM_001371656.1:c.3040A>G | NP_001358585.1:p.Met1014Val | |
| NM_001374820.1:c.3040A>G | NP_001361749.1:p.Met1014Val | |
| NM_001374828.1:c.3001A>G MANE Select | NP_001361757.1:p.Met1001Val | |
| NM_017519.3:c.3001A>G | NP_059989.3:p.Met1001Val |