Linked Data
ClinVar Variation Id:
439833
ClinVar RCV Id:
RCV000508055
dbSNP Id:
rs148813626
ExAC:
19:7123031 G / A
gnomAD v2:
19-7123031-G-A
gnomAD v3:
19-7123020-G-A
gnomAD v4:
19-7123020-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7123020G>A , CM000681.2:g.7123020G>A | GRCh38 |
| NC_000019.9:g.7123031G>A , CM000681.1:g.7123031G>A | GRCh37 |
| NC_000019.8:g.7074031G>A | NCBI36 |
| NG_008852.2:g.175981C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.3259-31C>T MANE Select | ENSP00000303830.4:n.3259-31C>T | |
| ENST00000302850.9:c.3259-31C>T | ENSP00000303830.4:n.3259-31C>T | |
| ENST00000341500.9:c.3223-31C>T | ENSP00000342838.4:n.3223-31C>T | |
| ENST00000593970.1:n.105-31C>T | ||
| ENST00000601099.1:n.139C>T | ||
| NM_000208.2:c.3259-31C>T | NP_000199.2:n.3259-31C>T | |
| NM_000208.3:c.3259-31C>T | NP_000199.2:n.3259-31C>T | |
| NM_001079817.1:c.3223-31C>T | NP_001073285.1:n.3223-31C>T | |
| NM_001079817.2:c.3223-31C>T | NP_001073285.1:n.3223-31C>T | |
| XM_011527988.1:c.3334-31C>T | XP_011526290.1:n.3334-31C>T | |
| XM_011527989.1:c.3298-31C>T | XP_011526291.1:n.3298-31C>T | |
| XM_011527988.2:c.3256-31C>T | XP_011526290.2:n.3256-31C>T | |
| XM_011527989.3:c.3220-31C>T | XP_011526291.2:n.3220-31C>T | |
| NM_000208.4:c.3259-31C>T MANE Select | NP_000199.2:n.3259-31C>T | |
| NM_001079817.3:c.3223-31C>T | NP_001073285.1:n.3223-31C>T |