Linked Data
ClinVar Variation Id:
300135
ClinVar RCV Id:
RCV000391262
dbSNP Id:
rs11003121
gnomAD v2:
10-54526763-G-A
gnomAD v3:
10-52767003-G-A
gnomAD v4:
10-52767003-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52767003G>A , CM000672.2:g.52767003G>A | GRCh38 |
| NC_000010.10:g.54526763G>A , CM000672.1:g.54526763G>A | GRCh37 |
| NC_000010.9:g.54196769G>A | NCBI36 |
| NG_008196.1:g.9698C>T , LRG_154:g.9698C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674931.1:c.*1134C>T MANE Select | ENSP00000502789.1:n.*1134C>T | |
| ENST00000675947.1:c.*1134C>T | ENSP00000502615.1:n.*1134C>T | |
| ENST00000373968.3:c.*1134C>T | ENSP00000363079.3:n.*1134C>T | |
| NM_000242.2:c.*1134C>T , LRG_154t1:c.*1134C>T | NP_000233.1:n.*1134C>T | |
| XM_006717861.2:c.*1134C>T | XP_006717924.1:n.*1134C>T | |
| XM_011539816.1:c.*1134C>T | XP_011538118.1:n.*1134C>T | |
| XM_006717861.4:c.*1134C>T | XP_006717924.1:n.*1134C>T | |
| XM_011539816.3:c.*1134C>T | XP_011538118.1:n.*1134C>T | |
| NM_000242.3:c.*1134C>T | NP_000233.1:n.*1134C>T | |
| NM_001378373.1:c.*1134C>T MANE Select | NP_001365302.1:n.*1134C>T | |
| NM_001378374.1:c.*1134C>T | NP_001365303.1:n.*1134C>T |