Linked Data
ClinVar Variation Id:
197618
dbSNP Id:
rs35130237
ExAC:
17:48245770 C / A
gnomAD v2:
17-48245770-C-A
gnomAD v3:
17-50168409-C-A
gnomAD v4:
17-50168409-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50168409C>A , CM000679.2:g.50168409C>A | GRCh38 |
| NC_000017.10:g.48245770C>A , CM000679.1:g.48245770C>A | GRCh37 |
| NC_000017.9:g.45600769C>A | NCBI36 |
| NG_008889.1:g.7405C>A , LRG_203:g.7405C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.421C>A | ENSP00000422030.2:p.Arg141Ser | |
| ENST00000511303.6:n.146C>A | ||
| ENST00000512526.2:c.412C>A | ENSP00000426606.2:n.412C>A | |
| ENST00000682109.1:c.301C>A | ENSP00000508041.1:p.Arg101Ser | |
| ENST00000683226.1:n.131C>A | ||
| ENST00000683294.1:c.421C>A | ENSP00000508134.1:p.Arg141Ser | |
| ENST00000262018.8:c.421C>A MANE Select | ENSP00000262018.3:p.Arg141Ser | |
| ENST00000262018.7:c.421C>A | ENSP00000262018.3:p.Arg141Ser | |
| ENST00000344627.10:c.421C>A | ENSP00000345522.6:p.Arg141Ser | |
| ENST00000502555.5:c.*80C>A | ENSP00000422817.1:n.*80C>A | |
| ENST00000511303.5:c.142C>A | ENSP00000426104.1:p.Arg48Ser | |
| ENST00000512526.1:c.256C>A | ||
| ENST00000513821.5:c.421C>A | ENSP00000426571.1:p.Arg141Ser | |
| ENST00000513942.5:n.212C>A | ||
| ENST00000514934.1:c.*127C>A | ENSP00000423168.1:n.*127C>A | |
| NM_000023.2:c.421C>A , LRG_203t1:c.421C>A | NP_000014.1:p.Arg141Ser | |
| NM_001135697.1:c.421C>A | NP_001129169.1:p.Arg141Ser | |
| XM_011525120.1:c.421C>A | XP_011523422.1:p.Arg141Ser | |
| XM_011525121.1:c.421C>A | XP_011523423.1:p.Arg141Ser | |
| XM_011525122.1:c.421C>A | XP_011523424.1:p.Arg141Ser | |
| XM_011525123.1:c.421C>A | XP_011523425.1:p.Arg141Ser | |
| XM_011525124.1:c.115C>A | XP_011523426.1:p.Arg39Ser | |
| XR_934517.1:n.487C>A | ||
| NM_000023.3:c.421C>A | NP_000014.1:p.Arg141Ser | |
| NM_001135697.2:c.421C>A | NP_001129169.1:p.Arg141Ser | |
| NR_135553.1:n.477C>A | ||
| XM_011525120.2:c.583C>A | XP_011523422.2:p.Arg195Ser | |
| XM_011525121.2:c.583C>A | XP_011523423.2:p.Arg195Ser | |
| XM_011525122.2:c.583C>A | XP_011523424.2:p.Arg195Ser | |
| XM_011525123.2:c.583C>A | XP_011523425.2:p.Arg195Ser | |
| XM_011525124.2:c.115C>A | XP_011523426.1:p.Arg39Ser | |
| XM_024450873.1:c.115C>A | XP_024306641.1:p.Arg39Ser | |
| XR_002958056.1:n.939C>A | ||
| NM_000023.4:c.421C>A MANE Select | NP_000014.1:p.Arg141Ser | |
| NM_001135697.3:c.421C>A | NP_001129169.1:p.Arg141Ser | |
| NR_135553.2:n.457C>A |