Linked Data
dbSNP Id:
rs759930504
ExAC:
2:21233839 T / A
gnomAD v2:
2-21233839-T-A
gnomAD v4:
2-21010967-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010967T>A , CM000664.2:g.21010967T>A | GRCh38 |
| NC_000002.11:g.21233839T>A , CM000664.1:g.21233839T>A | GRCh37 |
| NC_000002.10:g.21087344T>A | NCBI36 |
| NG_011793.1:g.38107A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.5901A>T MANE Select | ENSP00000233242.1:p.Lys1967Asn | |
| ENST00000616098.4:c.5901A>T | ENSP00000477990.1:p.Lys1967Asn | |
| NM_000384.2:c.5901A>T | NP_000375.2:p.Lys1967Asn | |
| XM_011532809.1:c.5864+37A>T | XP_011531111.1:n.5864+37A>T | |
| NM_000384.3:c.5901A>T MANE Select | NP_000375.3:p.Lys1967Asn |