Linked Data
ClinVar Variation Id:
311291
ClinVar RCV Id:
RCV000301885
dbSNP Id:
rs575352846
gnomAD v2:
13-20713250-G-A
gnomAD v3:
13-20139111-G-A
gnomAD v4:
13-20139111-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20139111G>A , CM000675.2:g.20139111G>A | GRCh38 |
| NC_000013.10:g.20713250G>A , CM000675.1:g.20713250G>A | GRCh37 |
| NC_000013.9:g.19611250G>A | NCBI36 |
| NG_016399.1:g.26934C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241125.4:c.*2870C>T MANE Select | ENSP00000241125.3:n.*2870C>T | |
| ENST00000241125.3:c.*2870C>T | ENSP00000241125.3:n.*2870C>T | |
| NM_021954.3:c.*2870C>T | NP_068773.2:n.*2870C>T | |
| XM_005266353.1:c.*2870C>T | XP_005266410.1:n.*2870C>T | |
| XM_011535048.1:c.*2870C>T | XP_011533350.1:n.*2870C>T | |
| XM_011535048.2:c.*2870C>T | XP_011533350.1:n.*2870C>T | |
| NM_021954.4:c.*2870C>T MANE Select | NP_068773.2:n.*2870C>T |