Linked Data
ClinVar Variation Id:
366303
ClinVar RCV Id:
RCV000274885
dbSNP Id:
rs775831366
gnomAD v2:
9-21864925-G-C
gnomAD v3:
9-21864926-G-C
gnomAD v4:
9-21864926-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21864926G>C , CM000671.2:g.21864926G>C | GRCh38 |
| NC_000009.11:g.21864925G>C , CM000671.1:g.21864925G>C | GRCh37 |
| NC_000009.10:g.21854925G>C | NCBI36 |
| NG_032650.1:g.67291G>C | |
| NG_032650.2:g.67291G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404796.3:c.347+46724G>C | ENSP00000385916.2:n.347+46724G>C | |
| ENST00000644715.2:c.*2912G>C MANE Select | ENSP00000494373.1:n.*2912G>C | |
| ENST00000380172.8:c.*2912G>C | ENSP00000369519.4:n.*2912G>C | |
| ENST00000404796.2:c.347+46724G>C | ENSP00000385916.2:n.347+46724G>C | |
| ENST00000577563.1:c.147+10056G>C | ENSP00000462082.1:n.147+10056G>C | |
| ENST00000580900.5:c.813+5501G>C | ENSP00000463424.1:n.813+5501G>C | |
| NM_002451.3:c.*2912G>C | NP_002442.2:n.*2912G>C | |
| NM_002451.4:c.*2912G>C MANE Select | NP_002442.2:n.*2912G>C | |
| NM_001396040.1:c.*2912G>C | NP_001382969.1:n.*2912G>C | |
| NM_001396041.1:c.813+5501G>C | NP_001382970.1:n.813+5501G>C | |
| NM_001396042.1:c.690+10056G>C | NP_001382971.1:n.690+10056G>C | |
| NM_001396043.1:c.813+5501G>C | NP_001382972.1:n.813+5501G>C | |
| NM_001396044.1:c.813+5501G>C | NP_001382973.1:n.813+5501G>C | |
| NM_001396045.1:c.690+10056G>C | NP_001382974.1:n.690+10056G>C | |
| NR_173242.1:n.3894G>C |