Linked Data
dbSNP Id:
rs762855776
ExAC:
6:157469998 T / G
gnomAD v2:
6-157469998-T-G
gnomAD v4:
6-157148864-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157148864T>G , CM000668.2:g.157148864T>G | GRCh38 |
| NC_000006.11:g.157469998T>G , CM000668.1:g.157469998T>G | GRCh37 |
| NC_000006.10:g.157511690T>G | NCBI36 |
| NG_032093.1:g.375935T>G | |
| NG_032093.2:g.375935T>G | |
| NG_066624.1:g.377839T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350026.11:c.3002T>G | ENSP00000055163.8:p.Met1001Arg | |
| ENST00000414678.8:c.2912T>G | ENSP00000412835.3:p.Met971Arg | |
| ENST00000637015.2:c.3002T>G | ENSP00000489729.2:p.Met1001Arg | |
| ENST00000319584.11:c.1016T>G | ENSP00000313006.7:p.Met339Arg | |
| ENST00000346085.10:c.3041T>G | ENSP00000344546.5:p.Met1014Arg | |
| ENST00000350026.10:c.2753T>G | ENSP00000055163.7:p.Met918Arg | |
| ENST00000414678.7:c.1160T>G | ENSP00000412835.2:p.Met387Arg | |
| ENST00000452544.2:n.903T>G | ||
| ENST00000635849.1:c.323T>G | ENSP00000490948.1:p.Met108Arg | |
| ENST00000636426.1:n.136T>G | ||
| ENST00000636930.2:c.3002T>G MANE Select | ENSP00000490491.2:p.Met1001Arg | |
| ENST00000637015.1:c.241T>G | ||
| ENST00000637568.1:c.45T>G | ||
| ENST00000637810.1:c.503T>G | ENSP00000489636.1:p.Met168Arg | |
| ENST00000637904.1:c.503T>G | ENSP00000490550.1:p.Met168Arg | |
| ENST00000647938.1:c.2792T>G | ENSP00000498155.1:p.Met931Arg | |
| ENST00000674190.1:n.1751T>G | ||
| ENST00000319584.10:c.1019T>G | ENSP00000313006.6:p.Met340Arg | |
| ENST00000346085.9:c.2792T>G | ENSP00000344546.4:p.Met931Arg | |
| ENST00000350026.9:c.2753T>G | ENSP00000055163.7:p.Met918Arg | |
| ENST00000414678.6:c.1160T>G | ENSP00000412835.2:p.Met387Arg | |
| ENST00000452544.1:n.849T>G | ||
| ENST00000478761.3:c.75T>G | ||
| NM_017519.2:c.2753T>G | NP_059989.2:p.Met918Arg | |
| NM_020732.3:c.2792T>G | NP_065783.3:p.Met931Arg | |
| XM_005267069.3:c.2753T>G | XP_005267126.2:p.Met918Arg | |
| XM_011535984.1:c.1703T>G | XP_011534286.1:p.Met568Arg | |
| XM_011535985.1:c.1523T>G | XP_011534287.1:p.Met508Arg | |
| XM_011535986.1:c.1283T>G | XP_011534288.1:p.Met428Arg | |
| XM_011535987.1:c.902T>G | XP_011534289.1:p.Met301Arg | |
| XM_011535988.1:c.-20+15657T>G | XP_011534290.1:n.-20+15657T>G | |
| NM_001346813.1:c.2753T>G | NP_001333742.1:p.Met918Arg | |
| NM_001363725.1:c.503T>G | NP_001350654.1:p.Met168Arg | |
| XM_011535984.2:c.2834T>G | XP_011534286.2:p.Met945Arg | |
| XM_011535988.3:c.-20+15657T>G | XP_011534290.1:n.-20+15657T>G | |
| XM_017011103.2:c.2834T>G | XP_016866592.1:p.Met945Arg | |
| XM_017011104.1:c.2834T>G | XP_016866593.1:p.Met945Arg | |
| XM_017011105.2:c.2834T>G | XP_016866594.1:p.Met945Arg | |
| XM_017011106.2:c.2834T>G | XP_016866595.1:p.Met945Arg | |
| XM_017011107.2:c.2654T>G | XP_016866596.1:p.Met885Arg | |
| XR_002956289.1:n.2917T>G | ||
| NM_001363725.2:c.503T>G | NP_001350654.1:p.Met168Arg | |
| NM_001371656.1:c.3041T>G | NP_001358585.1:p.Met1014Arg | |
| NM_001374820.1:c.3041T>G | NP_001361749.1:p.Met1014Arg | |
| NM_001374828.1:c.3002T>G MANE Select | NP_001361757.1:p.Met1001Arg | |
| NM_017519.3:c.3002T>G | NP_059989.3:p.Met1001Arg |