Linked Data
ClinVar Variation Id:
1971194
ClinVar RCV Id:
RCV002740537
dbSNP Id:
rs568641114
ExAC:
2:61147631 C / T
gnomAD v2:
2-61147631-C-T
gnomAD v3:
2-60920496-C-T
gnomAD v4:
2-60920496-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60920496C>T , CM000664.2:g.60920496C>T | GRCh38 |
| NC_000002.11:g.61147631C>T , CM000664.1:g.61147631C>T | GRCh37 |
| NC_000002.10:g.61001135C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699191.1:c.922+387C>T | ENSP00000514191.1:n.922+387C>T | |
| ENST00000699192.1:c.913+387C>T | ENSP00000514192.1:n.913+387C>T | |
| ENST00000699193.1:c.*908C>T | ENSP00000514193.1:n.*908C>T | |
| ENST00000699194.1:n.2694C>T | ||
| ENST00000699195.1:n.3213C>T | ||
| ENST00000394479.4:c.923-78C>T MANE Select | ENSP00000377989.4:n.923-78C>T | |
| ENST00000295025.12:c.1018+18C>T | ENSP00000295025.7:n.1018+18C>T | |
| ENST00000394479.3:c.923-78C>T | ENSP00000377989.3:n.923-78C>T | |
| NM_001291746.1:c.923-78C>T | NP_001278675.1:n.923-78C>T | |
| NM_002908.3:c.1018+18C>T | NP_002899.1:n.1018+18C>T | |
| XM_011533010.1:c.629-78C>T | XP_011531312.1:n.629-78C>T | |
| XM_011533010.3:c.629-78C>T | XP_011531312.1:n.629-78C>T | |
| XM_017004627.2:c.922+387C>T | XP_016860116.1:n.922+387C>T | |
| NM_001291746.2:c.923-78C>T MANE Select | NP_001278675.1:n.923-78C>T | |
| NM_002908.4:c.1018+18C>T | NP_002899.1:n.1018+18C>T |