Linked Data
dbSNP Id:
rs376860384
ExAC:
15:34520615 C / G
gnomAD v2:
15-34520615-C-G
gnomAD v4:
15-34228414-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34228414C>G , CM000677.2:g.34228414C>G | GRCh38 |
| NC_000015.9:g.34520615C>G , CM000677.1:g.34520615C>G | GRCh37 |
| NC_000015.8:g.32307907C>G | NCBI36 |
| NG_007951.1:g.114651G>C , LRG_270:g.114651G>C | |
| NG_054746.1:g.8418C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267750.9:c.356-15C>G MANE Select | ENSP00000267750.4:n.356-15C>G | |
| ENST00000249209.8:c.355+568C>G | ENSP00000249209.4:n.355+568C>G | |
| ENST00000267750.8:c.356-15C>G | ENSP00000267750.4:n.356-15C>G | |
| ENST00000557879.1:c.*286C>G | ENSP00000473881.1:n.*286C>G | |
| ENST00000558102.1:c.*108+568C>G | ENSP00000453880.1:n.*108+568C>G | |
| ENST00000558205.5:c.*109-15C>G | ENSP00000454042.1:n.*109-15C>G | |
| ENST00000559078.5:c.304-552C>G | ENSP00000454052.1:n.304-552C>G | |
| ENST00000559421.1:c.202-1339C>G | ENSP00000452672.1:n.202-1339C>G | |
| ENST00000560911.5:c.*109-15C>G | ENSP00000453610.1:n.*109-15C>G | |
| ENST00000560947.1:c.153-23C>G | ||
| ENST00000561246.1:n.1313+590C>G | ||
| NM_001286420.1:c.355+568C>G | NP_001273349.1:n.355+568C>G | |
| NM_016454.3:c.356-15C>G | NP_057538.1:n.356-15C>G | |
| NM_001351373.1:c.113-15C>G | NP_001338302.1:n.113-15C>G | |
| NR_147140.1:n.481+568C>G | ||
| NM_016454.4:c.356-15C>G MANE Select | NP_057538.1:n.356-15C>G | |
| NM_001286420.2:c.355+568C>G | NP_001273349.1:n.355+568C>G | |
| NM_001351373.2:c.113-15C>G | NP_001338302.1:n.113-15C>G | |
| NR_147140.2:n.462+568C>G |