Linked Data
dbSNP Id:
rs140964083
ExAC:
5:38955743 G / A
gnomAD v2:
5-38955743-G-A
gnomAD v3:
5-38955641-G-A
gnomAD v4:
5-38955641-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38955641G>A , CM000667.2:g.38955641G>A | GRCh38 |
| NC_000005.9:g.38955743G>A , CM000667.1:g.38955743G>A | GRCh37 |
| NC_000005.8:g.38991500G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296782.10:c.2563C>T | ENSP00000296782.5:p.Arg855Trp | |
| ENST00000503698.2:c.523C>T | ENSP00000518563.1:p.Arg175Trp | |
| ENST00000514735.2:c.2515C>T | ENSP00000423162.2:p.Arg839Trp | |
| ENST00000711063.1:c.2563C>T | ENSP00000518562.1:p.Arg855Trp | |
| ENST00000357387.8:c.2563C>T MANE Select | ENSP00000349959.3:p.Arg855Trp | |
| ENST00000296782.9:c.2563C>T | ENSP00000296782.5:p.Arg855Trp | |
| ENST00000357387.7:c.2563C>T | ENSP00000349959.3:p.Arg855Trp | |
| ENST00000503698.1:n.523C>T | ||
| ENST00000511516.5:c.*1787C>T | ENSP00000423019.1:n.*1787C>T | |
| NM_001285439.1:c.2563C>T | NP_001272368.1:p.Arg855Trp | |
| NM_001285440.1:c.1708C>T | NP_001272369.1:p.Arg570Trp | |
| NM_152756.4:c.2563C>T | NP_689969.2:p.Arg855Trp | |
| XM_006714463.2:c.2563C>T | XP_006714526.1:p.Arg855Trp | |
| XM_011514005.1:c.2563C>T | XP_011512307.1:p.Arg855Trp | |
| XM_011514006.1:c.2374C>T | XP_011512308.1:p.Arg792Trp | |
| XM_011514007.1:c.1708C>T | XP_011512309.1:p.Arg570Trp | |
| XM_006714463.3:c.2563C>T | XP_006714526.1:p.Arg855Trp | |
| XM_011514005.2:c.2563C>T | XP_011512307.1:p.Arg855Trp | |
| XM_011514006.3:c.2374C>T | XP_011512308.1:p.Arg792Trp | |
| XM_017009311.1:c.2515C>T | XP_016864800.1:p.Arg839Trp | |
| XM_017009312.1:c.2515C>T | XP_016864801.1:p.Arg839Trp | |
| XM_017009313.1:c.2404C>T | XP_016864802.1:p.Arg802Trp | |
| XM_017009314.2:c.1708C>T | XP_016864803.1:p.Arg570Trp | |
| XM_017009315.2:c.1708C>T | XP_016864804.1:p.Arg570Trp | |
| NM_152756.5:c.2563C>T MANE Select | NP_689969.2:p.Arg855Trp | |
| NM_001285439.2:c.2563C>T | NP_001272368.1:p.Arg855Trp | |
| NM_001285440.2:c.1708C>T | NP_001272369.1:p.Arg570Trp |