Linked Data
ClinVar Variation Id:
21335
ClinVar RCV Id:
RCV000020500
dbSNP Id:
rs113993987
ExAC:
14:51376748 T / G
gnomAD v2:
14-51376748-T-G
gnomAD v4:
14-50910030-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50910030T>G , CM000676.2:g.50910030T>G | GRCh38 |
| NC_000014.8:g.51376748T>G , CM000676.1:g.51376748T>G | GRCh37 |
| NC_000014.7:g.50446498T>G | NCBI36 |
| NG_012796.1:g.39501A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.2042A>C MANE Select | ENSP00000216392.7:p.Lys681Thr | |
| ENST00000216392.7:c.2042A>C | ENSP00000216392.7:p.Lys681Thr | |
| ENST00000532107.2:n.215A>C | ||
| ENST00000532462.5:c.2042A>C | ENSP00000431657.1:p.Lys681Thr | |
| ENST00000544180.6:c.1940A>C | ENSP00000443787.1:p.Lys647Thr | |
| NM_001163940.1:c.1940A>C | NP_001157412.1:p.Lys647Thr | |
| NM_002863.4:c.2042A>C | NP_002854.3:p.Lys681Thr | |
| NM_002863.5:c.2042A>C MANE Select | NP_002854.3:p.Lys681Thr | |
| NM_001163940.2:c.1940A>C | NP_001157412.1:p.Lys647Thr |