Linked Data
dbSNP Id:
rs1443948250
gnomAD v2:
21-45708481-T-C
gnomAD v3:
21-44288598-T-C
gnomAD v4:
21-44288598-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288598T>C , CM000683.2:g.44288598T>C | GRCh38 |
| NC_000021.8:g.45708481T>C , CM000683.1:g.45708481T>C | GRCh37 |
| NC_000021.7:g.44532909T>C | NCBI36 |
| NG_009556.1:g.7719T>C , LRG_18:g.7719T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.652+140T>C MANE Select | ENSP00000291582.5:n.652+140T>C | |
| ENST00000291582.5:c.652+140T>C | ENSP00000291582.5:n.652+140T>C | |
| ENST00000527919.5:n.1196+140T>C | ||
| ENST00000530812.5:n.1344T>C | ||
| NM_000383.3:c.652+140T>C | NP_000374.1:n.652+140T>C | |
| XM_011529551.1:c.652+140T>C | XP_011527853.1:n.652+140T>C | |
| NM_000383.4:c.652+140T>C MANE Select | NP_000374.1:n.652+140T>C |