Linked Data
dbSNP Id:
rs61756687
ExAC:
1:111857951 A / G
gnomAD v2:
1-111857951-A-G
gnomAD v3:
1-111315329-A-G
gnomAD v4:
1-111315329-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111315329A>G , CM000663.2:g.111315329A>G | GRCh38 |
| NC_000001.10:g.111857951A>G , CM000663.1:g.111857951A>G | GRCh37 |
| NC_000001.9:g.111659474A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369740.6:c.374A>G MANE Select | ENSP00000358755.1:p.Lys125Arg | |
| ENST00000343320.10:c.374A>G | ENSP00000341828.6:p.Lys125Arg | |
| ENST00000352594.10:c.50A>G | ENSP00000271312.8:p.Lys17Arg | |
| ENST00000353665.10:c.-142-405A>G | ENSP00000338970.7:n.-142-405A>G | |
| ENST00000369740.5:c.374A>G | ENSP00000358755.1:p.Lys125Arg | |
| ENST00000422815.5:c.206A>G | ENSP00000387671.1:p.Lys69Arg | |
| ENST00000430615.1:c.50A>G | ENSP00000391132.1:p.Lys17Arg | |
| ENST00000451398.6:c.-4+733A>G | ENSP00000390476.2:n.-4+733A>G | |
| ENST00000477918.6:n.852A>G | ||
| ENST00000483391.5:c.-4+733A>G | ENSP00000436946.1:n.-4+733A>G | |
| ENST00000489524.5:c.-4+733A>G | ENSP00000433309.1:n.-4+733A>G | |
| NM_001040623.2:c.-4+733A>G | NP_001035713.1:n.-4+733A>G | |
| NM_001258001.1:c.50A>G | NP_001244930.1:p.Lys17Arg | |
| NM_001258002.1:c.-4+733A>G | NP_001244931.1:n.-4+733A>G | |
| NM_001258003.1:c.50A>G | NP_001244932.1:p.Lys17Arg | |
| NM_001258004.1:c.-249A>G | NP_001244933.1:n.-249A>G | |
| NM_001258005.1:c.-142-405A>G | NP_001244934.1:n.-142-405A>G | |
| NM_021797.3:c.50A>G | NP_068569.2:p.Lys17Arg | |
| NM_201653.3:c.374A>G | NP_970615.2:p.Lys125Arg | |
| XM_006710577.2:c.-4+733A>G | XP_006710640.1:n.-4+733A>G | |
| XM_006710577.3:c.-4+733A>G | XP_006710640.1:n.-4+733A>G | |
| XM_017001048.1:c.50A>G | XP_016856537.1:p.Lys17Arg | |
| NM_201653.4:c.374A>G MANE Select | NP_970615.2:p.Lys125Arg | |
| NM_001040623.3:c.-4+733A>G | NP_001035713.1:n.-4+733A>G | |
| NM_001258001.2:c.50A>G | NP_001244930.1:p.Lys17Arg | |
| NM_001258002.2:c.-4+733A>G | NP_001244931.1:n.-4+733A>G | |
| NM_001258003.2:c.50A>G | NP_001244932.1:p.Lys17Arg | |
| NM_001258004.2:c.-249A>G | NP_001244933.1:n.-249A>G | |
| NM_001258005.2:c.-142-405A>G | NP_001244934.1:n.-142-405A>G | |
| NM_021797.4:c.50A>G | NP_068569.2:p.Lys17Arg |