Linked Data
dbSNP Id:
rs766960409
ExAC:
5:180037000 C / T
gnomAD v2:
5-180037000-C-T
gnomAD v3:
5-180610000-C-T
gnomAD v4:
5-180610000-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180610000C>T , CM000667.2:g.180610000C>T | GRCh38 |
| NC_000005.9:g.180037000C>T , CM000667.1:g.180037000C>T | GRCh37 |
| NC_000005.8:g.179969606C>T | NCBI36 |
| NG_011536.1:g.44625G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.3712G>A MANE Select | ENSP00000261937.6:p.Gly1238Arg | |
| ENST00000261937.10:c.3712G>A | ENSP00000261937.6:p.Gly1238Arg | |
| ENST00000393347.7:c.3712G>A | ENSP00000377016.3:p.Gly1238Arg | |
| ENST00000502603.5:n.412G>A | ||
| ENST00000502649.5:c.3712G>A | ENSP00000426057.1:p.Gly1238Arg | |
| ENST00000507059.5:n.4062G>A | ||
| ENST00000619105.4:c.*2655G>A | ENSP00000481134.1:n.*2655G>A | |
| NM_002020.4:c.3712G>A | NP_002011.2:p.Gly1238Arg | |
| NM_182925.4:c.3712G>A | NP_891555.2:p.Gly1238Arg | |
| XM_011534477.1:c.3961G>A | XP_011532779.1:p.Gly1321Arg | |
| XM_011534478.1:c.3943G>A | XP_011532780.1:p.Gly1315Arg | |
| XM_011534479.1:c.3961G>A | XP_011532781.1:p.Gly1321Arg | |
| XM_011534480.1:c.3961G>A | XP_011532782.1:p.Gly1321Arg | |
| XM_011534481.1:c.3961G>A | XP_011532783.1:p.Gly1321Arg | |
| XM_011534482.1:c.3730G>A | XP_011532784.1:p.Gly1244Arg | |
| XM_011534483.1:c.3652G>A | XP_011532785.1:p.Gly1218Arg | |
| XM_011534484.1:c.3253G>A | XP_011532786.1:p.Gly1085Arg | |
| XR_941095.1:n.3998G>A | ||
| NM_001354989.1:c.3712G>A | NP_001341918.1:p.Gly1238Arg | |
| XM_011534478.3:c.3943G>A | XP_011532780.1:p.Gly1315Arg | |
| XM_011534484.2:c.3253G>A | XP_011532786.1:p.Gly1085Arg | |
| XM_017009263.1:c.3943G>A | XP_016864752.1:p.Gly1315Arg | |
| XM_017009264.2:c.3943G>A | XP_016864753.1:p.Gly1315Arg | |
| XM_017009265.1:c.3943G>A | XP_016864754.1:p.Gly1315Arg | |
| XM_017009266.1:c.3943G>A | XP_016864755.1:p.Gly1315Arg | |
| XM_017009267.2:c.3943G>A | XP_016864756.1:p.Gly1315Arg | |
| XM_017009268.1:c.3634G>A | XP_016864757.1:p.Gly1212Arg | |
| XR_001742050.2:n.4202G>A | ||
| NM_182925.5:c.3712G>A MANE Select | NP_891555.2:p.Gly1238Arg | |
| NM_001354989.2:c.3712G>A | NP_001341918.1:p.Gly1238Arg | |
| NM_002020.5:c.3712G>A | NP_002011.2:p.Gly1238Arg |