Linked Data
dbSNP Id:
rs1448508804
gnomAD v2:
8-19808968-A-T
gnomAD v3:
8-19951457-A-T
gnomAD v4:
8-19951457-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951457A>T , CM000670.2:g.19951457A>T | GRCh38 |
| NC_000008.10:g.19808968A>T , CM000670.1:g.19808968A>T | GRCh37 |
| NC_000008.9:g.19853248A>T | NCBI36 |
| NG_008855.1:g.17387A>T | |
| NG_008855.2:g.54741A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.250-312A>T MANE Select | ENSP00000497642.1:n.250-312A>T | |
| ENST00000311322.8:c.250-312A>T | ENSP00000309757.6:n.250-312A>T | |
| ENST00000520959.5:c.22-312A>T | ENSP00000428496.1:n.22-312A>T | |
| ENST00000521994.1:n.435-240A>T | ||
| ENST00000522701.5:c.250-312A>T | ENSP00000428557.1:n.250-312A>T | |
| ENST00000524029.5:c.250-312A>T | ENSP00000428237.1:n.250-312A>T | |
| NM_000237.2:c.250-312A>T | NP_000228.1:n.250-312A>T | |
| NM_000237.3:c.250-312A>T MANE Select | NP_000228.1:n.250-312A>T |