Linked Data
ClinVar Variation Id:
525427
dbSNP Id:
rs149354918
ExAC:
19:48805993 G / A
gnomAD v2:
19-48805993-G-A
gnomAD v3:
19-48302736-G-A
gnomAD v4:
19-48302736-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48302736G>A , CM000681.2:g.48302736G>A | GRCh38 |
| NC_000019.9:g.48805993G>A , CM000681.1:g.48805993G>A | GRCh37 |
| NC_000019.8:g.53497805G>A | NCBI36 |
| NG_033251.1:g.22340C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474199.6:c.1198C>T | ENSP00000501357.1:p.Arg400Cys | |
| ENST00000674207.1:c.*906C>T | ENSP00000501374.1:n.*906C>T | |
| ENST00000674294.1:c.1198C>T MANE Select | ENSP00000501363.1:p.Arg400Cys | |
| ENST00000315396.7:c.1087C>T | ENSP00000318429.7:p.Arg363Cys | |
| ENST00000474199.5:n.1215C>T | ||
| ENST00000497273.1:n.516C>T | ||
| NM_144577.3:c.1087C>T | NP_653178.3:p.Arg363Cys | |
| XM_005259413.2:c.1198C>T | XP_005259470.1:p.Arg400Cys | |
| XM_005259414.2:c.1198C>T | XP_005259471.1:p.Arg400Cys | |
| XM_005259415.2:c.1198C>T | XP_005259472.1:p.Arg400Cys | |
| XM_005259416.3:c.514C>T | XP_005259473.1:p.Arg172Cys | |
| XM_011527515.1:c.1087C>T | XP_011525817.1:p.Arg363Cys | |
| XM_011527516.1:c.1087C>T | XP_011525818.1:p.Arg363Cys | |
| XM_011527517.1:c.1198C>T | XP_011525819.1:p.Arg400Cys | |
| XM_011527518.1:c.1198C>T | XP_011525820.1:p.Arg400Cys | |
| NM_001364171.1:c.1198C>T | NP_001351100.1:p.Arg400Cys | |
| NM_144577.4:c.1087C>T | NP_653178.3:p.Arg363Cys | |
| XM_005259414.3:c.1198C>T | XP_005259471.1:p.Arg400Cys | |
| XM_005259415.3:c.1198C>T | XP_005259472.1:p.Arg400Cys | |
| XM_005259416.4:c.514C>T | XP_005259473.1:p.Arg172Cys | |
| XM_011527515.2:c.1087C>T | XP_011525817.1:p.Arg363Cys | |
| XM_011527516.2:c.1087C>T | XP_011525818.1:p.Arg363Cys | |
| XM_017027483.1:c.922C>T | XP_016882972.1:p.Arg308Cys | |
| XM_024451782.1:c.1237C>T | XP_024307550.1:p.Arg413Cys | |
| XM_024451783.1:c.1198C>T | XP_024307551.1:p.Arg400Cys | |
| NM_001364171.2:c.1198C>T MANE Select | NP_001351100.1:p.Arg400Cys |