Linked Data
dbSNP Id:
rs1056926438
gnomAD v2:
13-24436466-T-G
gnomAD v3:
13-23862327-T-G
gnomAD v4:
13-23862327-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23862327T>G , CM000675.2:g.23862327T>G | GRCh38 |
| NC_000013.10:g.24436466T>G , CM000675.1:g.24436466T>G | GRCh37 |
| NC_000013.9:g.23334466T>G | NCBI36 |
| NG_052977.1:g.32122A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382172.4:c.1028A>C MANE Select | ENSP00000371607.3:p.Lys343Thr | |
| ENST00000382172.3:c.1028A>C | ENSP00000371607.3:p.Lys343Thr | |
| ENST00000494139.1:n.425A>C | ||
| NM_005932.3:c.1028A>C | NP_005923.2:p.Lys343Thr | |
| XM_011535097.1:c.842A>C | XP_011533399.1:p.Lys281Thr | |
| XM_011535098.1:c.1028A>C | XP_011533400.1:p.Lys343Thr | |
| XM_011535097.2:c.842A>C | XP_011533399.1:p.Lys281Thr | |
| XM_011535098.3:c.1028A>C | XP_011533400.1:p.Lys343Thr | |
| NM_005932.4:c.1028A>C MANE Select | NP_005923.3:p.Lys343Thr |