Linked Data
dbSNP Id:
rs994977716
gnomAD v2:
11-2549392-C-G
gnomAD v3:
11-2528162-C-G
gnomAD v4:
11-2528162-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2528162C>G , CM000673.2:g.2528162C>G | GRCh38 |
| NC_000011.9:g.2549392C>G , CM000673.1:g.2549392C>G | GRCh37 |
| NC_000011.8:g.2505968C>G | NCBI36 |
| NG_008935.1:g.88172C>G , LRG_287:g.88172C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.216+144C>G | ENSP00000434560.2:n.216+144C>G | |
| ENST00000646564.2:c.477+144C>G | ENSP00000495806.2:n.477+144C>G | |
| ENST00000155840.12:c.477+144C>G MANE Select | ENSP00000155840.2:n.477+144C>G | |
| ENST00000335475.6:c.96+144C>G | ENSP00000334497.5:n.96+144C>G | |
| ENST00000646564.1:c.123+144C>G | ENSP00000495806.1:n.123+144C>G | |
| ENST00000155840.9:c.477+144C>G | ENSP00000155840.2:n.477+144C>G | |
| ENST00000335475.5:c.96+144C>G | ENSP00000334497.5:n.96+144C>G | |
| ENST00000496887.6:c.216+144C>G | ENSP00000434560.1:n.216+144C>G | |
| NM_000218.2:c.477+144C>G , LRG_287t1:c.477+144C>G | NP_000209.2:n.477+144C>G | |
| NM_181798.1:c.96+144C>G , LRG_287t2:c.96+144C>G | NP_861463.1:n.96+144C>G | |
| NM_000218.3:c.477+144C>G MANE Select | NP_000209.2:n.477+144C>G |