Linked Data
dbSNP Id:
rs1340277724
gnomAD v2:
8-19809076-T-C
gnomAD v3:
8-19951565-T-C
gnomAD v4:
8-19951565-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951565T>C , CM000670.2:g.19951565T>C | GRCh38 |
| NC_000008.10:g.19809076T>C , CM000670.1:g.19809076T>C | GRCh37 |
| NC_000008.9:g.19853356T>C | NCBI36 |
| NG_008855.1:g.17495T>C | |
| NG_008855.2:g.54849T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.250-204T>C MANE Select | ENSP00000497642.1:n.250-204T>C | |
| ENST00000311322.8:c.250-204T>C | ENSP00000309757.6:n.250-204T>C | |
| ENST00000520959.5:c.22-204T>C | ENSP00000428496.1:n.22-204T>C | |
| ENST00000521994.1:n.435-132T>C | ||
| ENST00000522701.5:c.250-204T>C | ENSP00000428557.1:n.250-204T>C | |
| ENST00000524029.5:c.250-204T>C | ENSP00000428237.1:n.250-204T>C | |
| NM_000237.2:c.250-204T>C | NP_000228.1:n.250-204T>C | |
| NM_000237.3:c.250-204T>C MANE Select | NP_000228.1:n.250-204T>C |