Linked Data
dbSNP Id:
rs540757952
gnomAD v2:
5-135392618-C-T
gnomAD v3:
5-136056929-C-T
gnomAD v4:
5-136056929-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136056929C>T , CM000667.2:g.136056929C>T | GRCh38 |
| NC_000005.9:g.135392618C>T , CM000667.1:g.135392618C>T | GRCh37 |
| NC_000005.8:g.135420517C>T | NCBI36 |
| NG_012646.1:g.33035C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1678+134C>T MANE Select | ENSP00000416330.2:n.1678+134C>T | |
| ENST00000442011.6:c.1678+134C>T | ENSP00000416330.2:n.1678+134C>T | |
| ENST00000506699.5:n.2195+134C>T | ||
| ENST00000507018.5:c.1656+134C>T | ||
| ENST00000509485.5:c.675+134C>T | ||
| ENST00000514242.5:n.449+134C>T | ||
| ENST00000514554.5:c.830+134C>T | ||
| NM_000358.2:c.1678+134C>T | NP_000349.1:n.1678+134C>T | |
| NM_000358.3:c.1678+134C>T MANE Select | NP_000349.1:n.1678+134C>T |