Linked Data
ClinVar Variation Id:
370491
ClinVar RCV Id:
RCV000412121
dbSNP Id:
rs1057516528
gnomAD v4:
6-73641926-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73641926T>G , CM000668.2:g.73641926T>G | GRCh38 |
| NC_000006.11:g.74351649T>G , CM000668.1:g.74351649T>G | GRCh37 |
| NC_000006.10:g.74408370T>G | NCBI36 |
| NG_008272.1:g.17089A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355773.6:c.292-2A>C MANE Select | ENSP00000348019.5:n.292-2A>C | |
| ENST00000355773.5:c.292-2A>C | ENSP00000348019.5:n.292-2A>C | |
| ENST00000481996.1:n.58-2A>C | ||
| NM_012434.4:c.292-2A>C | NP_036566.1:n.292-2A>C | |
| XM_005248710.2:c.241-2A>C | XP_005248767.1:n.241-2A>C | |
| XM_005248711.1:c.94-2A>C | XP_005248768.1:n.94-2A>C | |
| XM_011535750.1:c.292-2A>C | XP_011534052.1:n.292-2A>C | |
| XM_011535751.1:c.292-2A>C | XP_011534053.1:n.292-2A>C | |
| NM_012434.5:c.292-2A>C MANE Select | NP_036566.1:n.292-2A>C | |
| NM_001382629.1:c.61-2A>C | NP_001369558.1:n.61-2A>C | |
| NM_001382630.1:c.292-2A>C | NP_001369559.1:n.292-2A>C | |
| NM_001382631.1:c.313-2A>C | NP_001369560.1:n.313-2A>C | |
| NM_001382632.1:c.292-2A>C | NP_001369561.1:n.292-2A>C | |
| NM_001382633.1:c.292-2A>C | NP_001369562.1:n.292-2A>C | |
| NM_001382634.1:c.292-2A>C | NP_001369563.1:n.292-2A>C | |
| NM_001382635.1:c.292-2A>C | NP_001369564.1:n.292-2A>C | |
| NM_001382636.1:c.61-2A>C | NP_001369565.1:n.61-2A>C |