Linked Data
dbSNP Id:
rs767618201
ExAC:
5:149360972 C / T
gnomAD v2:
5-149360972-C-T
gnomAD v4:
5-149981409-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981409C>T , CM000667.2:g.149981409C>T | GRCh38 |
| NC_000005.9:g.149360972C>T , CM000667.1:g.149360972C>T | GRCh37 |
| NC_000005.8:g.149341165C>T | NCBI36 |
| NG_007147.2:g.22527C>T , LRG_684:g.22527C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1816C>T MANE Select | ENSP00000286298.4:p.Pro606Ser | |
| ENST00000286298.4:c.1816C>T | ENSP00000286298.4:p.Pro606Ser | |
| ENST00000503336.1:c.372+3058C>T | ENSP00000426053.1:n.372+3058C>T | |
| NM_000112.3:c.1816C>T , LRG_684t1:c.1816C>T | NP_000103.2:p.Pro606Ser | |
| XM_017009191.2:c.1816C>T | XP_016864680.1:p.Pro606Ser | |
| NM_000112.4:c.1816C>T MANE Select | NP_000103.2:p.Pro606Ser |