Linked Data
dbSNP Id:
rs1364342312
gnomAD v2:
19-45409086-T-C
gnomAD v3:
19-44905829-T-C
gnomAD v4:
19-44905829-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44905829T>C , CM000681.2:g.44905829T>C | GRCh38 |
| NC_000019.9:g.45409086T>C , CM000681.1:g.45409086T>C | GRCh37 |
| NC_000019.8:g.50100926T>C | NCBI36 |
| NG_007084.2:g.5048T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.-36T>C MANE Select | ENSP00000252486.3:n.-36T>C | |
| ENST00000252486.8:c.-36T>C | ENSP00000252486.3:n.-36T>C | |
| ENST00000434152.5:c.-40T>C | ENSP00000413653.2:n.-40T>C | |
| ENST00000446996.5:c.-51T>C | ENSP00000413135.1:n.-51T>C | |
| ENST00000485628.2:n.34T>C | ||
| NM_000041.3:c.-36T>C | NP_000032.1:n.-36T>C | |
| NM_001302688.1:c.-40T>C | NP_001289617.1:n.-40T>C | |
| NM_001302691.1:c.-51T>C | NP_001289620.1:n.-51T>C | |
| NM_000041.4:c.-36T>C MANE Select | NP_000032.1:n.-36T>C | |
| NM_001302688.2:c.-40T>C | NP_001289617.1:n.-40T>C | |
| NM_001302691.2:c.-51T>C | NP_001289620.1:n.-51T>C |