Linked Data
dbSNP Id:
rs1555836793
gnomAD v4:
21-31667279-T-C
MyVariant Identifiers:
chr21:g.33039592T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667279T>C , CM000683.2:g.31667279T>C | GRCh38 |
| NC_000021.8:g.33039592T>C , CM000683.1:g.33039592T>C | GRCh37 |
| NC_000021.7:g.31961463T>C | NCBI36 |
| NG_008689.1:g.12658T>C , LRG_652:g.12658T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.261T>C MANE Select | ENSP00000270142.7:p.Asn87= | |
| ENST00000270142.10:c.261T>C | ENSP00000270142.6:p.Asn87= | |
| ENST00000389995.4:c.204T>C | ENSP00000374645.4:p.Asn68= | |
| ENST00000470944.1:n.1189T>C | ||
| ENST00000476106.5:n.524T>C | ||
| NM_000454.4:c.261T>C , LRG_652t1:c.261T>C | NP_000445.1:p.Asn87= | |
| NM_000454.5:c.261T>C MANE Select | NP_000445.1:p.Asn87= |