Linked Data
dbSNP Id:
rs1480777516
gnomAD v2:
11-2549405-C-A
gnomAD v3:
11-2528175-C-A
gnomAD v4:
11-2528175-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2528175C>A , CM000673.2:g.2528175C>A | GRCh38 |
| NC_000011.9:g.2549405C>A , CM000673.1:g.2549405C>A | GRCh37 |
| NC_000011.8:g.2505981C>A | NCBI36 |
| NG_008935.1:g.88185C>A , LRG_287:g.88185C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.216+157C>A | ENSP00000434560.2:n.216+157C>A | |
| ENST00000646564.2:c.477+157C>A | ENSP00000495806.2:n.477+157C>A | |
| ENST00000155840.12:c.477+157C>A MANE Select | ENSP00000155840.2:n.477+157C>A | |
| ENST00000335475.6:c.96+157C>A | ENSP00000334497.5:n.96+157C>A | |
| ENST00000646564.1:c.123+157C>A | ENSP00000495806.1:n.123+157C>A | |
| ENST00000155840.9:c.477+157C>A | ENSP00000155840.2:n.477+157C>A | |
| ENST00000335475.5:c.96+157C>A | ENSP00000334497.5:n.96+157C>A | |
| ENST00000496887.6:c.216+157C>A | ENSP00000434560.1:n.216+157C>A | |
| NM_000218.2:c.477+157C>A , LRG_287t1:c.477+157C>A | NP_000209.2:n.477+157C>A | |
| NM_181798.1:c.96+157C>A , LRG_287t2:c.96+157C>A | NP_861463.1:n.96+157C>A | |
| NM_000218.3:c.477+157C>A MANE Select | NP_000209.2:n.477+157C>A |