Linked Data
ClinVar Variation Id:
340231
dbSNP Id:
rs754862849
ExAC:
21:46910215 C / T
gnomAD v2:
21-46910215-C-T
gnomAD v3:
21-45490301-C-T
gnomAD v4:
21-45490301-C-T
COSMIC:
COSM419670
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45490301C>T , CM000683.2:g.45490301C>T | GRCh38 |
| NC_000021.8:g.46910215C>T , CM000683.1:g.46910215C>T | GRCh37 |
| NC_000021.7:g.45734643C>T | NCBI36 |
| NG_011903.1:g.90119C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.2526C>T | ENSP00000347665.5:p.Pro842= | |
| ENST00000651438.1:c.1986C>T MANE Select | ENSP00000498485.1:p.Pro662= | |
| ENST00000342220.9:c.27C>T | ENSP00000339118.5:p.Pro9= | |
| ENST00000355480.9:c.2526C>T | ENSP00000347665.5:p.Pro842= | |
| ENST00000359759.8:c.3231C>T | ENSP00000352798.4:p.Pro1077= | |
| ENST00000400337.6:c.1986C>T | ENSP00000383191.2:p.Pro662= | |
| NM_030582.3:c.2526C>T | NP_085059.2:p.Pro842= | |
| NM_130444.2:c.3231C>T | NP_569711.2:p.Pro1077= | |
| NM_130445.3:c.1986C>T | NP_569712.2:p.Pro662= | |
| NM_030582.4:c.2526C>T | NP_085059.2:p.Pro842= | |
| NM_130444.3:c.3231C>T | NP_569711.2:p.Pro1077= | |
| NM_130445.4:c.1986C>T | NP_569712.2:p.Pro662= | |
| NM_001379500.1:c.1986C>T MANE Select | NP_001366429.1:p.Pro662= |