Linked Data
ClinVar Variation Id:
347916
ClinVar RCV Id:
RCV000973913
dbSNP Id:
rs373221915
ExAC:
4:158041822 T / G
gnomAD v2:
4-158041822-T-G
gnomAD v3:
4-157120670-T-G
gnomAD v4:
4-157120670-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.157120670T>G , CM000666.2:g.157120670T>G | GRCh38 |
| NC_000004.11:g.158041822T>G , CM000666.1:g.158041822T>G | GRCh37 |
| NC_000004.10:g.158261272T>G | NCBI36 |
| NG_015823.1:g.49546T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264428.9:c.229+8T>G MANE Select | ENSP00000264428.4:n.229+8T>G | |
| ENST00000264428.8:c.229+8T>G | ENSP00000264428.4:n.229+8T>G | |
| ENST00000506411.5:c.*149+8T>G | ENSP00000422039.1:n.*149+8T>G | |
| ENST00000509282.1:c.229+8T>G | ENSP00000427186.1:n.229+8T>G | |
| ENST00000512619.5:c.122+42524T>G | ENSP00000425433.1:n.122+42524T>G | |
| ENST00000515642.5:c.*161+8T>G | ENSP00000421044.1:n.*161+8T>G | |
| ENST00000541722.5:c.229+8T>G | ENSP00000441873.1:n.229+8T>G | |
| NM_000824.4:c.229+8T>G | NP_000815.1:n.229+8T>G | |
| NM_001166060.1:c.229+8T>G | NP_001159532.1:n.229+8T>G | |
| NM_001166061.1:c.229+8T>G | NP_001159533.1:n.229+8T>G | |
| XM_011531876.1:c.-66+8T>G | XP_011530178.1:n.-66+8T>G | |
| XM_017008034.1:c.-66+8T>G | XP_016863523.1:n.-66+8T>G | |
| XM_017008035.2:c.229+8T>G | XP_016863524.1:n.229+8T>G | |
| XR_001741207.2:n.410+8T>G | ||
| XR_002959723.1:n.410+8T>G | ||
| NM_000824.5:c.229+8T>G MANE Select | NP_000815.1:n.229+8T>G | |
| NM_001166060.2:c.229+8T>G | NP_001159532.1:n.229+8T>G | |
| NM_001166061.2:c.229+8T>G | NP_001159533.1:n.229+8T>G |