Linked Data
ClinVar Variation Id:
2414166
ClinVar RCV Id:
RCV003106499
dbSNP Id:
rs185736681
ExAC:
19:7125395 G / A
gnomAD v2:
19-7125395-G-A
gnomAD v3:
19-7125384-G-A
gnomAD v4:
19-7125384-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125384G>A , CM000681.2:g.7125384G>A | GRCh38 |
| NC_000019.9:g.7125395G>A , CM000681.1:g.7125395G>A | GRCh37 |
| NC_000019.8:g.7076395G>A | NCBI36 |
| NG_008852.2:g.173617C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3157C>T MANE Select | ENSP00000303830.4:p.Arg1053Cys | |
| ENST00000302850.9:c.3157C>T | ENSP00000303830.4:p.Arg1053Cys | |
| ENST00000341500.9:c.3121C>T | ENSP00000342838.4:p.Arg1041Cys | |
| ENST00000593970.1:n.3C>T | ||
| NM_000208.2:c.3157C>T | NP_000199.2:p.Arg1053Cys | |
| NM_000208.3:c.3157C>T | NP_000199.2:p.Arg1053Cys | |
| NM_001079817.1:c.3121C>T | NP_001073285.1:p.Arg1041Cys | |
| NM_001079817.2:c.3121C>T | NP_001073285.1:p.Arg1041Cys | |
| XM_011527988.1:c.3232C>T | XP_011526290.1:p.Arg1078Cys | |
| XM_011527989.1:c.3196C>T | XP_011526291.1:p.Arg1066Cys | |
| XM_011527988.2:c.3154C>T | XP_011526290.2:p.Arg1052Cys | |
| XM_011527989.3:c.3118C>T | XP_011526291.2:p.Arg1040Cys | |
| NM_000208.4:c.3157C>T MANE Select | NP_000199.2:p.Arg1053Cys | |
| NM_001079817.3:c.3121C>T | NP_001073285.1:p.Arg1041Cys |