Linked Data
dbSNP Id:
rs762732020
ExAC:
5:180036973 G / A
gnomAD v2:
5-180036973-G-A
gnomAD v3:
5-180609973-G-A
gnomAD v4:
5-180609973-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180609973G>A , CM000667.2:g.180609973G>A | GRCh38 |
| NC_000005.9:g.180036973G>A , CM000667.1:g.180036973G>A | GRCh37 |
| NC_000005.8:g.179969579G>A | NCBI36 |
| NG_011536.1:g.44652C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.3739C>T MANE Select | ENSP00000261937.6:p.Arg1247Cys | |
| ENST00000261937.10:c.3739C>T | ENSP00000261937.6:p.Arg1247Cys | |
| ENST00000393347.7:c.3739C>T | ENSP00000377016.3:p.Arg1247Cys | |
| ENST00000502603.5:n.439C>T | ||
| ENST00000502649.5:c.3739C>T | ENSP00000426057.1:p.Arg1247Cys | |
| ENST00000507059.5:n.4089C>T | ||
| ENST00000619105.4:c.*2682C>T | ENSP00000481134.1:n.*2682C>T | |
| NM_002020.4:c.3739C>T | NP_002011.2:p.Arg1247Cys | |
| NM_182925.4:c.3739C>T | NP_891555.2:p.Arg1247Cys | |
| XM_011534477.1:c.3988C>T | XP_011532779.1:p.Arg1330Cys | |
| XM_011534478.1:c.3970C>T | XP_011532780.1:p.Arg1324Cys | |
| XM_011534479.1:c.3988C>T | XP_011532781.1:p.Arg1330Cys | |
| XM_011534480.1:c.3988C>T | XP_011532782.1:p.Arg1330Cys | |
| XM_011534481.1:c.3988C>T | XP_011532783.1:p.Arg1330Cys | |
| XM_011534482.1:c.3757C>T | XP_011532784.1:p.Arg1253Cys | |
| XM_011534483.1:c.3679C>T | XP_011532785.1:p.Arg1227Cys | |
| XM_011534484.1:c.3280C>T | XP_011532786.1:p.Arg1094Cys | |
| XR_941095.1:n.4025C>T | ||
| NM_001354989.1:c.3739C>T | NP_001341918.1:p.Arg1247Cys | |
| XM_011534478.3:c.3970C>T | XP_011532780.1:p.Arg1324Cys | |
| XM_011534484.2:c.3280C>T | XP_011532786.1:p.Arg1094Cys | |
| XM_017009263.1:c.3970C>T | XP_016864752.1:p.Arg1324Cys | |
| XM_017009264.2:c.3970C>T | XP_016864753.1:p.Arg1324Cys | |
| XM_017009265.1:c.3970C>T | XP_016864754.1:p.Arg1324Cys | |
| XM_017009266.1:c.3970C>T | XP_016864755.1:p.Arg1324Cys | |
| XM_017009267.2:c.3970C>T | XP_016864756.1:p.Arg1324Cys | |
| XM_017009268.1:c.3661C>T | XP_016864757.1:p.Arg1221Cys | |
| XR_001742050.2:n.4229C>T | ||
| NM_182925.5:c.3739C>T MANE Select | NP_891555.2:p.Arg1247Cys | |
| NM_001354989.2:c.3739C>T | NP_001341918.1:p.Arg1247Cys | |
| NM_002020.5:c.3739C>T | NP_002011.2:p.Arg1247Cys |