Linked Data
ClinVar Variation Id:
1522710
ClinVar RCV Id:
RCV002036211
dbSNP Id:
rs1553226908
gnomAD v2:
1-147230682-C-G
gnomAD v4:
1-147758574-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147758574C>G , CM000663.2:g.147758574C>G | GRCh38 |
| NC_000001.10:g.147230682C>G , CM000663.1:g.147230682C>G | GRCh37 |
| NC_000001.9:g.145697306C>G | NCBI36 |
| NG_009369.2:g.19801G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579774.3:c.665G>C MANE Select | ENSP00000463851.1:p.Ser222Thr | |
| ENST00000430508.1:c.665G>C | ENSP00000407645.1:p.Ser222Thr | |
| ENST00000579774.2:c.665G>C | ENSP00000463851.1:p.Ser222Thr | |
| ENST00000621517.1:c.665G>C | ENSP00000484552.1:p.Ser222Thr | |
| NM_005266.6:c.665G>C | NP_005257.2:p.Ser222Thr | |
| NM_181703.3:c.665G>C | NP_859054.1:p.Ser222Thr | |
| XM_005272951.3:c.665G>C | XP_005273008.1:p.Ser222Thr | |
| XM_011509415.1:c.665G>C | XP_011507717.1:p.Ser222Thr | |
| XR_922078.1:n.434-18987C>G | ||
| XR_922079.1:n.434-18987C>G | ||
| XM_005272951.4:c.665G>C | XP_005273008.1:p.Ser222Thr | |
| XM_017001044.1:c.665G>C | XP_016856533.1:p.Ser222Thr | |
| XR_922079.3:n.744-18987C>G | ||
| NM_181703.4:c.665G>C MANE Select | NP_859054.1:p.Ser222Thr | |
| NM_005266.7:c.665G>C | NP_005257.2:p.Ser222Thr |