Linked Data
ClinVar Variation Id:
297176
dbSNP Id:
rs3737251
gnomAD v2:
1-33283583-G-C
gnomAD v3:
1-32817982-G-C
gnomAD v4:
1-32817982-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32817982G>C , CM000663.2:g.32817982G>C | GRCh38 |
| NC_000001.10:g.33283583G>C , CM000663.1:g.33283583G>C | GRCh37 |
| NC_000001.9:g.33056170G>C | NCBI36 |
| NG_008408.1:g.5051C>G , LRG_273:g.5051C>G | |
| NG_031988.1:g.5541G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.-738C>G (YARS1) | ENSP00000502019.1:n.-738C>G | |
| ENST00000373475.10:c.-120+293G>C (S100PBP) MANE Select | ENSP00000362574.5:n.-120+293G>C | |
| ENST00000356689.7:n.98+293G>C (S100PBP) | ||
| ENST00000373475.9:c.-120+293G>C (S100PBP) | ENSP00000362574.5:n.-120+293G>C | |
| ENST00000373476.5:c.-120+383G>C (S100PBP) | ENSP00000362575.1:n.-120+383G>C | |
| ENST00000373477.8:c.-738C>G (YARS1) | ENSP00000362576.4:n.-738C>G | |
| ENST00000474103.1:n.109+136G>C (S100PBP) | ||
| ENST00000477248.1:n.34+293G>C (S100PBP) | ||
| ENST00000482212.1:c.-120+136G>C (S100PBP) | ENSP00000431432.1:n.-120+136G>C | |
| ENST00000526230.1:c.-176+293G>C (S100PBP) | ENSP00000431940.1:n.-176+293G>C | |
| ENST00000529027.5:c.-173+293G>C (S100PBP) | ENSP00000431921.1:n.-173+293G>C | |
| ENST00000530710.5:c.-120+1000G>C (S100PBP) | ENSP00000434933.1:n.-120+1000G>C | |
| ENST00000531123.5:n.115+293G>C (S100PBP) | ||
| ENST00000531256.1:c.-3+293G>C (S100PBP) | ENSP00000435856.1:n.-3+293G>C | |
| NM_001256121.1:c.-120+383G>C (S100PBP) | NP_001243050.1:n.-120+383G>C | |
| NM_003680.3:c.-738C>G , LRG_273t1:c.-738C>G (YARS1) | NP_003671.1:n.-738C>G | |
| NM_022753.3:c.-120+293G>C (S100PBP) | NP_073590.2:n.-120+293G>C | |
| XM_006710819.2:c.-120+293G>C (S100PBP) | XP_006710882.1:n.-120+293G>C | |
| XM_006710820.2:c.-120+293G>C (S100PBP) | XP_006710883.1:n.-120+293G>C | |
| XM_011541961.1:c.-120+136G>C (S100PBP) | XP_011540263.1:n.-120+136G>C | |
| XM_011541962.1:c.-120+1000G>C (S100PBP) | XP_011540264.1:n.-120+1000G>C | |
| XM_011541963.1:c.-120+293G>C (S100PBP) | XP_011540265.1:n.-120+293G>C | |
| XR_946740.1:n.172+293G>C (S100PBP) | ||
| XM_011541961.2:c.-120+136G>C (S100PBP) | XP_011540263.1:n.-120+136G>C | |
| XM_011541962.2:c.-120+1000G>C (S100PBP) | XP_011540264.1:n.-120+1000G>C | |
| XM_011541963.2:c.-120+293G>C (S100PBP) | XP_011540265.1:n.-120+293G>C | |
| XM_017002098.2:c.-120+293G>C (S100PBP) | XP_016857587.1:n.-120+293G>C | |
| XR_001737363.2:n.135+293G>C (S100PBP) | ||
| XR_001737364.2:n.135+293G>C (S100PBP) | ||
| XR_001737365.2:n.135+293G>C (S100PBP) | ||
| XR_946740.3:n.135+293G>C (S100PBP) | ||
| NM_022753.4:c.-120+293G>C (S100PBP) MANE Select | NP_073590.2:n.-120+293G>C | |
| NM_001256121.2:c.-120+383G>C (S100PBP) | NP_001243050.1:n.-120+383G>C |