Linked Data
ClinVar Variation Id:
311300
ClinVar RCV Id:
RCV000332494
dbSNP Id:
rs555846962
gnomAD v2:
13-20713809-T-G
gnomAD v3:
13-20139670-T-G
gnomAD v4:
13-20139670-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20139670T>G , CM000675.2:g.20139670T>G | GRCh38 |
| NC_000013.10:g.20713809T>G , CM000675.1:g.20713809T>G | GRCh37 |
| NC_000013.9:g.19611809T>G | NCBI36 |
| NG_016399.1:g.26375A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241125.4:c.*2311A>C MANE Select | ENSP00000241125.3:n.*2311A>C | |
| ENST00000241125.3:c.*2311A>C | ENSP00000241125.3:n.*2311A>C | |
| NM_021954.3:c.*2311A>C | NP_068773.2:n.*2311A>C | |
| XM_005266353.1:c.*2311A>C | XP_005266410.1:n.*2311A>C | |
| XM_011535048.1:c.*2311A>C | XP_011533350.1:n.*2311A>C | |
| XM_011535048.2:c.*2311A>C | XP_011533350.1:n.*2311A>C | |
| NM_021954.4:c.*2311A>C MANE Select | NP_068773.2:n.*2311A>C |