Linked Data
dbSNP Id:
rs147492646
gnomAD v2:
6-137021904-G-A
gnomAD v3:
6-136700766-G-A
gnomAD v4:
6-136700766-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136700766G>A , CM000668.2:g.136700766G>A | GRCh38 |
| NC_000006.11:g.137021904G>A , CM000668.1:g.137021904G>A | GRCh37 |
| NC_000006.10:g.137063597G>A | NCBI36 |
| NG_011965.1:g.96753C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698928.1:c.940-2084C>T | ENSP00000514039.1:n.940-2084C>T | |
| ENST00000359015.5:c.613-2084C>T MANE Select | ENSP00000351908.4:n.613-2084C>T | |
| ENST00000359015.4:c.613-2084C>T | ENSP00000351908.4:n.613-2084C>T | |
| NM_005923.3:c.613-2084C>T | NP_005914.1:n.613-2084C>T | |
| XM_011535837.1:c.613-2084C>T | XP_011534139.1:n.613-2084C>T | |
| XM_011535838.1:c.613-2084C>T | XP_011534140.1:n.613-2084C>T | |
| XM_011535839.1:c.613-2084C>T | XP_011534141.1:n.613-2084C>T | |
| XM_011535839.3:c.940-2084C>T | XP_011534141.2:n.940-2084C>T | |
| XM_017010870.1:c.940-2084C>T | XP_016866359.1:n.940-2084C>T | |
| XM_017010871.1:c.940-2084C>T | XP_016866360.1:n.940-2084C>T | |
| XM_017010872.1:c.940-2084C>T | XP_016866361.1:n.940-2084C>T | |
| XM_017010873.1:c.940-2084C>T | XP_016866362.1:n.940-2084C>T | |
| XM_017010874.1:c.940-2084C>T | XP_016866363.1:n.940-2084C>T | |
| XM_017010875.1:c.940-2084C>T | XP_016866364.1:n.940-2084C>T | |
| XM_017010876.1:c.31-2084C>T | XP_016866365.1:n.31-2084C>T | |
| XM_017010877.1:c.31-2084C>T | XP_016866366.1:n.31-2084C>T | |
| NM_005923.4:c.613-2084C>T MANE Select | NP_005914.1:n.613-2084C>T |