Linked Data
ClinVar Variation Id:
2814967
ClinVar RCV Id:
RCV003612703
dbSNP Id:
rs562237921
gnomAD v3:
11-2884850-G-C
gnomAD v4:
11-2884850-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2884850G>C , CM000673.2:g.2884850G>C | GRCh38 |
| NC_000011.9:g.2906080G>C , CM000673.1:g.2906080G>C | GRCh37 |
| NC_000011.8:g.2862656G>C | NCBI36 |
| NG_008022.1:g.5916C>G , LRG_533:g.5916C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681969.1:n.143-716C>G | ||
| ENST00000380725.2:c.255+352C>G | ENSP00000370101.1:n.255+352C>G | |
| ENST00000414822.8:c.640C>G | ENSP00000413720.3:p.Pro214Ala | |
| ENST00000430149.3:c.640C>G | ENSP00000411552.2:p.Pro214Ala | |
| ENST00000440480.8:c.607C>G MANE Select | ENSP00000411257.2:p.Pro203Ala | |
| ENST00000647251.1:c.255+352C>G | ENSP00000496631.1:n.255+352C>G | |
| ENST00000380725.1:c.255+352C>G | ENSP00000370101.1:n.255+352C>G | |
| ENST00000414822.7:c.640C>G | ENSP00000413720.3:p.Pro214Ala | |
| ENST00000430149.2:c.640C>G | ENSP00000411552.2:p.Pro214Ala | |
| ENST00000440480.6:c.607C>G | ENSP00000411257.2:p.Pro203Ala | |
| NM_000076.2:c.640C>G , LRG_533t1:c.640C>G | NP_000067.1:p.Pro214Ala | |
| NM_001122630.1:c.607C>G | NP_001116102.1:p.Pro203Ala | |
| NM_001122631.1:c.607C>G | NP_001116103.1:p.Pro203Ala | |
| XM_005252732.3:c.255+352C>G | XP_005252789.1:n.255+352C>G | |
| NM_001362474.1:c.640C>G | NP_001349403.1:p.Pro214Ala | |
| NM_001362475.1:c.255+352C>G | NP_001349404.1:n.255+352C>G | |
| NM_001122630.2:c.607C>G MANE Select | NP_001116102.1:p.Pro203Ala | |
| NM_001122631.2:c.607C>G | NP_001116103.1:p.Pro203Ala | |
| NM_001362474.2:c.640C>G | NP_001349403.1:p.Pro214Ala | |
| NM_001362475.2:c.255+352C>G | NP_001349404.1:n.255+352C>G |