Linked Data
dbSNP Id:
rs548401229
gnomAD v2:
15-68501711-G-A
gnomAD v3:
15-68209373-G-A
gnomAD v4:
15-68209373-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68209373G>A , CM000677.2:g.68209373G>A | GRCh38 |
| NC_000015.9:g.68501711G>A , CM000677.1:g.68501711G>A | GRCh37 |
| NC_000015.8:g.66288765G>A | NCBI36 |
| NG_008764.2:g.52839C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.665+264C>T MANE Select | ENSP00000249806.5:n.665+264C>T | |
| ENST00000562767.2:c.84-11745C>T | ENSP00000456336.1:n.84-11745C>T | |
| ENST00000563917.2:n.507+264C>T | ||
| ENST00000565471.6:c.206+264C>T | ENSP00000457384.1:n.206+264C>T | |
| ENST00000635747.1:c.*568+264C>T | ENSP00000490627.1:n.*568+264C>T | |
| ENST00000636212.1:c.*335+264C>T | ENSP00000489851.1:n.*335+264C>T | |
| ENST00000636674.1:n.1767+264C>T | ||
| ENST00000636964.1:n.2193+264C>T | ||
| ENST00000637054.1:c.198+9163C>T | ENSP00000490807.1:n.198+9163C>T | |
| ENST00000637329.1:c.634+264C>T | ||
| ENST00000637450.1:c.*319+264C>T | ENSP00000490204.1:n.*319+264C>T | |
| ENST00000637494.1:c.377+264C>T | ENSP00000490057.1:n.377+264C>T | |
| ENST00000637667.1:c.566+264C>T | ENSP00000489843.1:n.566+264C>T | |
| ENST00000637823.1:c.490+264C>T | ||
| ENST00000637888.1:c.198+9163C>T | ENSP00000490546.1:n.198+9163C>T | |
| ENST00000638076.1:c.*268+264C>T | ENSP00000490373.1:n.*268+264C>T | |
| ENST00000638144.1:n.308+264C>T | ||
| ENST00000646164.1:c.38+9163C>T | ||
| ENST00000249806.9:c.665+264C>T | ENSP00000249806.5:n.665+264C>T | |
| ENST00000538696.5:c.761+264C>T | ENSP00000445770.1:n.761+264C>T | |
| ENST00000562767.1:c.84-11745C>T | ENSP00000456336.1:n.84-11745C>T | |
| ENST00000564752.1:c.*49+264C>T | ENSP00000457822.1:n.*49+264C>T | |
| ENST00000565471.5:c.206+264C>T | ENSP00000457384.1:n.206+264C>T | |
| ENST00000566347.5:c.476+264C>T | ENSP00000457783.1:n.476+264C>T | |
| ENST00000567060.5:c.*63+264C>T | ENSP00000454818.1:n.*63+264C>T | |
| NM_017882.2:c.665+264C>T | NP_060352.1:n.665+264C>T | |
| XR_931861.1:n.887+264C>T | ||
| NM_017882.3:c.665+264C>T MANE Select | NP_060352.1:n.665+264C>T |