Linked Data
ClinVar Variation Id:
1444107
ClinVar RCV Id:
RCV001981652
dbSNP Id:
rs1162085262
gnomAD v3:
21-44893449-C-G
gnomAD v4:
21-44893449-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44893449C>G , CM000683.2:g.44893449C>G | GRCh38 |
| NC_000021.8:g.46313364C>G , CM000683.1:g.46313364C>G | GRCh37 |
| NC_000021.7:g.45137792C>G | NCBI36 |
| NG_007270.2:g.40390G>C , LRG_76:g.40390G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302347.10:c.1251G>C | ENSP00000303242.6:p.Arg417Ser | |
| ENST00000652462.1:c.1179G>C MANE Select | ENSP00000498780.1:p.Arg393Ser | |
| ENST00000302347.9:c.1179G>C | ENSP00000303242.5:p.Arg393Ser | |
| ENST00000355153.8:c.1179G>C | ENSP00000347279.4:p.Arg393Ser | |
| ENST00000397850.6:c.1179G>C | ENSP00000380948.2:p.Arg393Ser | |
| ENST00000397852.5:c.1179G>C | ENSP00000380950.1:p.Arg393Ser | |
| ENST00000397854.7:c.1008G>C | ENSP00000380952.3:p.Arg336Ser | |
| ENST00000397857.5:c.1179G>C | ENSP00000380955.1:p.Arg393Ser | |
| ENST00000475170.5:n.579G>C | ||
| ENST00000498666.5:n.2748G>C | ||
| ENST00000523323.5:c.*1006G>C | ENSP00000427732.1:n.*1006G>C | |
| ENST00000610622.4:c.1008G>C | ENSP00000480700.1:p.Arg336Ser | |
| NM_000211.4:c.1179G>C | NP_000202.3:p.Arg393Ser | |
| NM_001127491.2:c.1179G>C | NP_001120963.2:p.Arg393Ser | |
| NM_001303238.1:c.972G>C | NP_001290167.1:p.Arg324Ser | |
| XM_006724001.1:c.972G>C | XP_006724064.1:p.Arg324Ser | |
| XM_006724001.2:c.972G>C | XP_006724064.1:p.Arg324Ser | |
| NM_000211.5:c.1179G>C MANE Select | NP_000202.3:p.Arg393Ser | |
| NM_001127491.3:c.1179G>C | NP_001120963.2:p.Arg393Ser | |
| NM_001303238.2:c.972G>C | NP_001290167.1:p.Arg324Ser |