Linked Data
ClinVar Variation Id:
434953
dbSNP Id:
rs368009374
ExAC:
2:25469613 C / T
gnomAD v2:
2-25469613-C-T
gnomAD v3:
2-25246744-C-T
gnomAD v4:
2-25246744-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25246744C>T , CM000664.2:g.25246744C>T | GRCh38 |
| NC_000002.11:g.25469613C>T , CM000664.1:g.25469613C>T | GRCh37 |
| NC_000002.10:g.25323117C>T | NCBI36 |
| NG_029465.2:g.100847G>A , LRG_459:g.100847G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683393.1:c.301G>A | ENSP00000508654.1:p.Gly101Ser | |
| ENST00000683760.1:c.486G>A | ENSP00000507765.1:p.Pro162= | |
| ENST00000321117.10:c.1155G>A MANE Select | ENSP00000324375.5:p.Pro385= | |
| ENST00000264709.7:c.1155G>A | ENSP00000264709.3:p.Pro385= | |
| ENST00000321117.9:c.1155G>A | ENSP00000324375.5:p.Pro385= | |
| ENST00000380746.8:c.588G>A | ENSP00000370122.4:p.Pro196= | |
| ENST00000380756.7:c.1155G>A | ENSP00000370132.3:p.Pro385= | |
| ENST00000402667.1:c.486G>A | ENSP00000384237.1:p.Pro162= | |
| ENST00000474807.5:n.450G>A | ||
| ENST00000484184.1:n.549G>A | ||
| NM_022552.4:c.1155G>A , LRG_459t1:c.1155G>A | NP_072046.2:p.Pro385= | |
| NM_153759.3:c.588G>A , LRG_459t2:c.588G>A | NP_715640.2:p.Pro196= | |
| NM_175629.2:c.1155G>A , LRG_459t4:c.1155G>A | NP_783328.1:p.Pro385= | |
| XM_005264175.3:c.1155G>A | XP_005264232.1:p.Pro385= | |
| XM_005264177.3:c.486G>A | XP_005264234.1:p.Pro162= | |
| XM_006711957.2:c.1155G>A | XP_006712020.1:p.Pro385= | |
| XM_006711958.2:c.711G>A | XP_006712021.1:p.Pro237= | |
| XM_011532662.1:c.1008G>A | XP_011530964.1:p.Pro336= | |
| XM_011532663.1:c.990G>A | XP_011530965.1:p.Pro330= | |
| XM_011532664.1:c.1155G>A | XP_011530966.1:p.Pro385= | |
| XM_011532665.1:c.699G>A | XP_011530967.1:p.Pro233= | |
| XM_011532666.1:c.627G>A | XP_011530968.1:p.Pro209= | |
| XM_011532667.1:c.486G>A | XP_011530969.1:p.Pro162= | |
| XM_011532668.1:c.1155G>A | XP_011530970.1:p.Pro385= | |
| NM_001320893.1:c.699G>A | NP_001307822.1:p.Pro233= | |
| NR_135490.1:n.1493G>A | ||
| XM_005264175.5:c.1155G>A | XP_005264232.1:p.Pro385= | |
| XM_005264177.4:c.486G>A | XP_005264234.1:p.Pro162= | |
| XM_011532662.2:c.1008G>A | XP_011530964.1:p.Pro336= | |
| XM_011532663.2:c.990G>A | XP_011530965.1:p.Pro330= | |
| XM_011532664.2:c.1155G>A | XP_011530966.1:p.Pro385= | |
| XM_011532666.2:c.627G>A | XP_011530968.1:p.Pro209= | |
| XM_011532667.3:c.486G>A | XP_011530969.1:p.Pro162= | |
| XM_017003526.1:c.1155G>A | XP_016859015.1:p.Pro385= | |
| XM_017003527.1:c.486G>A | XP_016859016.1:p.Pro162= | |
| XR_001738657.1:n.1432G>A | ||
| NM_001375819.1:c.486G>A | NP_001362748.1:p.Pro162= | |
| NR_135490.2:n.1386G>A | ||
| NM_022552.5:c.1155G>A MANE Select | NP_072046.2:p.Pro385= |