Linked Data
ClinVar Variation Id:
374110
ClinVar RCV Id:
RCV000415381
dbSNP Id:
rs1057518906
gnomAD v3:
4-88007878-C-T
gnomAD v4:
4-88007878-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007878C>T , CM000666.2:g.88007878C>T | GRCh38 |
| NC_000004.11:g.88929030C>T , CM000666.1:g.88929030C>T | GRCh37 |
| NC_000004.10:g.89148054C>T | NCBI36 |
| NG_008604.1:g.5211C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237596.7:c.145C>T MANE Select | ENSP00000237596.2:p.Gln49Ter | |
| ENST00000237596.6:c.145C>T | ENSP00000237596.2:p.Gln49Ter | |
| NM_000297.3:c.145C>T | NP_000288.1:p.Gln49Ter | |
| XM_011532028.1:c.145C>T | XP_011530330.1:p.Gln49Ter | |
| XR_244632.2:n.240C>T | ||
| NR_156488.1:n.232C>T | ||
| XM_011532028.2:c.145C>T | XP_011530330.1:p.Gln49Ter | |
| NM_000297.4:c.145C>T MANE Select | NP_000288.1:p.Gln49Ter | |
| NR_156488.2:n.244C>T |