Linked Data
dbSNP Id:
rs142322370
ExAC:
5:180030329 G / A
gnomAD v2:
5-180030329-G-A
gnomAD v3:
5-180603329-G-A
gnomAD v4:
5-180603329-G-A
COSMIC:
COSM244558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180603329G>A , CM000667.2:g.180603329G>A | GRCh38 |
| NC_000005.9:g.180030329G>A , CM000667.1:g.180030329G>A | GRCh37 |
| NC_000005.8:g.179962935G>A | NCBI36 |
| NG_011536.1:g.51296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.3955C>T MANE Select | ENSP00000261937.6:p.Arg1319Trp | |
| ENST00000261937.10:c.3955C>T | ENSP00000261937.6:p.Arg1319Trp | |
| ENST00000502603.5:n.655C>T | ||
| NM_182925.4:c.3955C>T | NP_891555.2:p.Arg1319Trp | |
| XM_011534477.1:c.4204C>T | XP_011532779.1:p.Arg1402Trp | |
| XM_011534478.1:c.4186C>T | XP_011532780.1:p.Arg1396Trp | |
| XM_011534479.1:c.*101C>T | XP_011532781.1:n.*101C>T | |
| XM_011534482.1:c.3973C>T | XP_011532784.1:p.Arg1325Trp | |
| XM_011534483.1:c.3895C>T | XP_011532785.1:p.Arg1299Trp | |
| XM_011534484.1:c.3496C>T | XP_011532786.1:p.Arg1166Trp | |
| XR_941095.1:n.4241C>T | ||
| XM_011534478.3:c.4186C>T | XP_011532780.1:p.Arg1396Trp | |
| XM_011534484.2:c.3496C>T | XP_011532786.1:p.Arg1166Trp | |
| XM_017009263.1:c.*101C>T | XP_016864752.1:n.*101C>T | |
| XM_017009268.1:c.3877C>T | XP_016864757.1:p.Arg1293Trp | |
| XR_001742050.2:n.4445C>T | ||
| NM_182925.5:c.3955C>T MANE Select | NP_891555.2:p.Arg1319Trp |