Linked Data
dbSNP Id:
rs765038633
ExAC:
14:51372147 G / A
gnomAD v2:
14-51372147-G-A
gnomAD v4:
14-50905429-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50905429G>A , CM000676.2:g.50905429G>A | GRCh38 |
| NC_000014.8:g.51372147G>A , CM000676.1:g.51372147G>A | GRCh37 |
| NC_000014.7:g.50441897G>A | NCBI36 |
| NG_012796.1:g.44102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.2507C>T MANE Select | ENSP00000216392.7:p.Ser836Phe | |
| ENST00000216392.7:c.2507C>T | ENSP00000216392.7:p.Ser836Phe | |
| ENST00000532462.5:c.2379+2842C>T | ENSP00000431657.1:n.2379+2842C>T | |
| ENST00000544180.6:c.2405C>T | ENSP00000443787.1:p.Ser802Phe | |
| NM_001163940.1:c.2405C>T | NP_001157412.1:p.Ser802Phe | |
| NM_002863.4:c.2507C>T | NP_002854.3:p.Ser836Phe | |
| NM_002863.5:c.2507C>T MANE Select | NP_002854.3:p.Ser836Phe | |
| NM_001163940.2:c.2405C>T | NP_001157412.1:p.Ser802Phe |