Linked Data
ClinVar Variation Id:
286413
ClinVar RCV Id:
RCV000266953
dbSNP Id:
rs201445608
ExAC:
19:7125387 C / T
gnomAD v2:
19-7125387-C-T
gnomAD v3:
19-7125376-C-T
gnomAD v4:
19-7125376-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125376C>T , CM000681.2:g.7125376C>T | GRCh38 |
| NC_000019.9:g.7125387C>T , CM000681.1:g.7125387C>T | GRCh37 |
| NC_000019.8:g.7076387C>T | NCBI36 |
| NG_008852.2:g.173625G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3165G>A MANE Select | ENSP00000303830.4:p.Ala1055= | |
| ENST00000302850.9:c.3165G>A | ENSP00000303830.4:p.Ala1055= | |
| ENST00000341500.9:c.3129G>A | ENSP00000342838.4:p.Ala1043= | |
| ENST00000593970.1:n.11G>A | ||
| NM_000208.2:c.3165G>A | NP_000199.2:p.Ala1055= | |
| NM_000208.3:c.3165G>A | NP_000199.2:p.Ala1055= | |
| NM_001079817.1:c.3129G>A | NP_001073285.1:p.Ala1043= | |
| NM_001079817.2:c.3129G>A | NP_001073285.1:p.Ala1043= | |
| XM_011527988.1:c.3240G>A | XP_011526290.1:p.Ala1080= | |
| XM_011527989.1:c.3204G>A | XP_011526291.1:p.Ala1068= | |
| XM_011527988.2:c.3162G>A | XP_011526290.2:p.Ala1054= | |
| XM_011527989.3:c.3126G>A | XP_011526291.2:p.Ala1042= | |
| NM_000208.4:c.3165G>A MANE Select | NP_000199.2:p.Ala1055= | |
| NM_001079817.3:c.3129G>A | NP_001073285.1:p.Ala1043= |