Linked Data
dbSNP Id:
rs16970881
gnomAD v2:
16-21113272-G-A
gnomAD v3:
16-21101951-G-A
gnomAD v4:
16-21101951-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21101951G>A , CM000678.2:g.21101951G>A | GRCh38 |
| NC_000016.9:g.21113272G>A , CM000678.1:g.21113272G>A | GRCh37 |
| NC_000016.8:g.21020773G>A | NCBI36 |
| NG_052617.1:g.62491C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698260.1:c.2228+2520C>T MANE Select | ENSP00000513632.1:n.2228+2520C>T | |
| ENST00000685858.1:c.2408+2520C>T | ENSP00000508756.1:n.2408+2520C>T | |
| ENST00000261383.3:c.2366+2520C>T | ENSP00000261383.3:n.2366+2520C>T | |
| NM_017539.2:c.2366+2520C>T | NP_060009.1:n.2366+2520C>T | |
| XM_006721062.1:c.2228+2520C>T | XP_006721125.1:n.2228+2520C>T | |
| XM_011545882.1:c.2249+2520C>T | XP_011544184.1:n.2249+2520C>T | |
| XM_011545883.1:c.2249+2520C>T | XP_011544185.1:n.2249+2520C>T | |
| XM_011545884.1:c.2006+2520C>T | XP_011544186.1:n.2006+2520C>T | |
| XM_011545885.1:c.2249+2520C>T | XP_011544187.1:n.2249+2520C>T | |
| XM_011545886.1:c.1238+2520C>T | XP_011544188.1:n.1238+2520C>T | |
| XM_011545887.1:c.446+2520C>T | XP_011544189.1:n.446+2520C>T | |
| XM_011545890.1:c.2249+2520C>T | XP_011544192.1:n.2249+2520C>T | |
| NM_001347886.1:c.2228+2520C>T | NP_001334815.1:n.2228+2520C>T | |
| XM_011545882.2:c.2249+2520C>T | XP_011544184.1:n.2249+2520C>T | |
| XM_011545885.3:c.2249+2520C>T | XP_011544187.1:n.2249+2520C>T | |
| XM_011545886.2:c.1238+2520C>T | XP_011544188.1:n.1238+2520C>T | |
| XM_017023426.1:c.2249+2520C>T | XP_016878915.1:n.2249+2520C>T | |
| XM_017023427.1:c.2006+2520C>T | XP_016878916.1:n.2006+2520C>T | |
| XM_017023428.1:c.2249+2520C>T | XP_016878917.1:n.2249+2520C>T | |
| XM_017023429.1:c.2249+2520C>T | XP_016878918.1:n.2249+2520C>T | |
| XM_017023431.1:c.2249+2520C>T | XP_016878920.1:n.2249+2520C>T | |
| XM_017023432.1:c.2408+2520C>T | XP_016878921.1:n.2408+2520C>T | |
| NM_001347886.2:c.2228+2520C>T MANE Select | NP_001334815.1:n.2228+2520C>T |