Linked Data
ClinVar Variation Id:
339917
ClinVar RCV Id:
RCV000401150
dbSNP Id:
rs71332549
gnomAD v2:
21-38123602-G-A
gnomAD v3:
21-36751301-G-A
gnomAD v4:
21-36751301-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36751301G>A , CM000683.2:g.36751301G>A | GRCh38 |
| NC_000021.8:g.38123602G>A , CM000683.1:g.38123602G>A | GRCh37 |
| NC_000021.7:g.37045472G>A | NCBI36 |
| NG_016193.1:g.243935C>T | |
| NG_029519.1:g.56612G>A | |
| NG_016193.2:g.244094C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674895.3:c.*2945C>T MANE Select | ENSP00000502087.2:n.*2945C>T | |
| ENST00000674895.2:c.*2945C>T | ENSP00000502087.1:n.*2945C>T | |
| ENST00000336648.8:c.*2945C>T | ENSP00000338387.3:n.*2945C>T | |
| ENST00000399120.5:c.*2945C>T | ENSP00000382071.1:n.*2945C>T | |
| ENST00000612277.4:c.*2945C>T | ENSP00000479939.1:n.*2945C>T | |
| NM_000411.6:c.*2945C>T | NP_000402.3:n.*2945C>T | |
| NM_001242784.1:c.*2945C>T | NP_001229713.1:n.*2945C>T | |
| NM_001242785.1:c.*2945C>T | NP_001229714.1:n.*2945C>T | |
| NM_000411.7:c.*2945C>T | NP_000402.3:n.*2945C>T | |
| NM_001242784.2:c.*2945C>T | NP_001229713.1:n.*2945C>T | |
| NM_001242785.2:c.*2945C>T | NP_001229714.1:n.*2945C>T | |
| NM_001352514.1:c.*2945C>T | NP_001339443.1:n.*2945C>T | |
| NM_001352515.1:c.*2945C>T | NP_001339444.1:n.*2945C>T | |
| NM_001352516.1:c.*2945C>T | NP_001339445.1:n.*2945C>T | |
| NM_001352517.1:c.*2945C>T | NP_001339446.1:n.*2945C>T | |
| NM_001352518.1:c.*2945C>T | NP_001339447.1:n.*2945C>T | |
| NR_148020.1:n.5834C>T | ||
| NR_148021.1:n.5808C>T | ||
| XM_017028330.1:c.*2945C>T | XP_016883819.1:n.*2945C>T | |
| NM_000411.8:c.*2945C>T | NP_000402.3:n.*2945C>T | |
| NM_001242784.3:c.*2945C>T | NP_001229713.1:n.*2945C>T | |
| NM_001352514.2:c.*2945C>T MANE Select | NP_001339443.1:n.*2945C>T | |
| NM_001352515.2:c.*2945C>T | NP_001339444.1:n.*2945C>T | |
| NM_001352516.2:c.*2945C>T | NP_001339445.1:n.*2945C>T | |
| NR_148020.2:n.5651C>T | ||
| NM_001352518.2:c.*2945C>T | NP_001339447.1:n.*2945C>T |