Linked Data
dbSNP Id:
rs2292910
gnomAD v2:
11-45903613-A-C
gnomAD v3:
11-45882062-A-C
gnomAD v4:
11-45882062-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45882062A>C , CM000673.2:g.45882062A>C | GRCh38 |
| NC_000011.9:g.45903613A>C , CM000673.1:g.45903613A>C | GRCh37 |
| NC_000011.8:g.45860189A>C | NCBI36 |
| NG_012153.1:g.1412A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000616080.2:c.*1151A>C MANE Select | ENSP00000484684.1:n.*1151A>C | |
| ENST00000443527.6:c.*1151A>C | ENSP00000406751.2:n.*1151A>C | |
| ENST00000616623.4:c.*1151A>C | ENSP00000478187.1:n.*1151A>C | |
| NM_001127457.2:c.*1151A>C | NP_001120929.1:n.*1151A>C | |
| NM_021117.3:c.*1151A>C | NP_066940.2:n.*1151A>C | |
| NM_021117.4:c.*1151A>C | NP_066940.3:n.*1151A>C | |
| NM_021117.5:c.*1151A>C MANE Select | NP_066940.3:n.*1151A>C | |
| NM_001127457.3:c.*1151A>C | NP_001120929.1:n.*1151A>C |