Linked Data
ClinVar Variation Id:
1080291
ClinVar RCV Id:
RCV001395888
dbSNP Id:
rs761394248
ExAC:
21:45711091 C / T
gnomAD v2:
21-45711091-C-T
gnomAD v4:
21-44291208-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44291208C>T , CM000683.2:g.44291208C>T | GRCh38 |
| NC_000021.8:g.45711091C>T , CM000683.1:g.45711091C>T | GRCh37 |
| NC_000021.7:g.44535519C>T | NCBI36 |
| NG_009556.1:g.10329C>T , LRG_18:g.10329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.993C>T MANE Select | ENSP00000291582.5:p.Pro331= | |
| ENST00000291582.5:c.993C>T | ENSP00000291582.5:p.Pro331= | |
| ENST00000337909.5:n.454C>T | ||
| ENST00000397994.8:n.454C>T | ||
| ENST00000527919.5:n.1723C>T | ||
| ENST00000530812.5:n.2740C>T | ||
| NM_000383.3:c.993C>T | NP_000374.1:p.Pro331= | |
| XM_011529551.1:c.990C>T | XP_011527853.1:p.Pro330= | |
| NM_000383.4:c.993C>T MANE Select | NP_000374.1:p.Pro331= |