Linked Data
dbSNP Id:
rs2287019
ExAC:
19:46202172 C / T
gnomAD v2:
19-46202172-C-T
gnomAD v3:
19-45698914-C-T
gnomAD v4:
19-45698914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45698914C>T , CM000681.2:g.45698914C>T | GRCh38 |
| NC_000019.9:g.46202172C>T , CM000681.1:g.46202172C>T | GRCh37 |
| NC_000019.8:g.50894012C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000012049.10:c.886+14C>T MANE Select | ENSP00000012049.4:n.886+14C>T | |
| ENST00000677024.1:c.*779+14C>T | ENSP00000503301.1:n.*779+14C>T | |
| ENST00000677542.1:c.*743+14C>T | ENSP00000504457.1:n.*743+14C>T | |
| ENST00000678102.1:c.*899+14C>T | ENSP00000504441.1:n.*899+14C>T | |
| ENST00000678862.1:c.786+215C>T | ENSP00000504501.1:n.786+215C>T | |
| ENST00000012049.9:c.886+14C>T | ENSP00000012049.4:n.886+14C>T | |
| ENST00000366382.8:c.604+14C>T | ENSP00000387944.2:n.604+14C>T | |
| ENST00000592769.1:n.339+14C>T | ||
| NM_001163377.1:c.604+14C>T | NP_001156849.1:n.604+14C>T | |
| NM_017659.3:c.886+14C>T | NP_060129.2:n.886+14C>T | |
| XM_011527047.1:c.786+215C>T | XP_011525349.1:n.786+215C>T | |
| XR_001753711.1:n.1086+215C>T | ||
| NM_017659.4:c.886+14C>T MANE Select | NP_060129.2:n.886+14C>T | |
| NM_001163377.2:c.604+14C>T | NP_001156849.1:n.604+14C>T |