Linked Data
dbSNP Id:
rs141081994
ExAC:
11:2799157 C / T
gnomAD v2:
11-2799157-C-T
gnomAD v3:
11-2777927-C-T
gnomAD v4:
11-2777927-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2777927C>T , CM000673.2:g.2777927C>T | GRCh38 |
| NC_000011.9:g.2799157C>T , CM000673.1:g.2799157C>T | GRCh37 |
| NC_000011.8:g.2755733C>T | NCBI36 |
| NG_008935.1:g.337937C>T , LRG_287:g.337937C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1376-49C>T | ENSP00000434560.2:n.1376-49C>T | |
| ENST00000646564.2:c.1193-49C>T | ENSP00000495806.2:n.1193-49C>T | |
| ENST00000155840.12:c.1733-49C>T MANE Select | ENSP00000155840.2:n.1733-49C>T | |
| ENST00000335475.6:c.1352-49C>T | ENSP00000334497.5:n.1352-49C>T | |
| ENST00000526095.2:c.137-49C>T | ENSP00000494939.1:n.137-49C>T | |
| ENST00000646564.1:c.839-49C>T | ENSP00000495806.1:n.839-49C>T | |
| ENST00000155840.9:c.1733-49C>T | ENSP00000155840.2:n.1733-49C>T | |
| ENST00000335475.5:c.1352-49C>T | ENSP00000334497.5:n.1352-49C>T | |
| ENST00000526095.1:n.240-49C>T | ||
| NM_000218.2:c.1733-49C>T , LRG_287t1:c.1733-49C>T | NP_000209.2:n.1733-49C>T | |
| NM_181798.1:c.1352-49C>T , LRG_287t2:c.1352-49C>T | NP_861463.1:n.1352-49C>T | |
| NM_000218.3:c.1733-49C>T MANE Select | NP_000209.2:n.1733-49C>T |