Linked Data
dbSNP Id:
rs376523721
ExAC:
14:51378435 A / G
gnomAD v2:
14-51378435-A-G
gnomAD v4:
14-50911717-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50911717A>G , CM000676.2:g.50911717A>G | GRCh38 |
| NC_000014.8:g.51378435A>G , CM000676.1:g.51378435A>G | GRCh37 |
| NC_000014.7:g.50448185A>G | NCBI36 |
| NG_012796.1:g.37814T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.1969+13T>C MANE Select | ENSP00000216392.7:n.1969+13T>C | |
| ENST00000216392.7:c.1969+13T>C | ENSP00000216392.7:n.1969+13T>C | |
| ENST00000532107.2:n.142+13T>C | ||
| ENST00000532462.5:c.1969+13T>C | ENSP00000431657.1:n.1969+13T>C | |
| ENST00000544180.6:c.1867+13T>C | ENSP00000443787.1:n.1867+13T>C | |
| NM_001163940.1:c.1867+13T>C | NP_001157412.1:n.1867+13T>C | |
| NM_002863.4:c.1969+13T>C | NP_002854.3:n.1969+13T>C | |
| NM_002863.5:c.1969+13T>C MANE Select | NP_002854.3:n.1969+13T>C | |
| NM_001163940.2:c.1867+13T>C | NP_001157412.1:n.1867+13T>C |