Linked Data
dbSNP Id:
rs7766973
gnomAD v2:
6-15268051-C-T
gnomAD v3:
6-15267820-C-T
gnomAD v4:
6-15267820-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15267820C>T , CM000668.2:g.15267820C>T | GRCh38 |
| NC_000006.11:g.15268051C>T , CM000668.1:g.15268051C>T | GRCh37 |
| NC_000006.10:g.15376030C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341776.7:c.45+21236C>T MANE Select | ENSP00000341280.2:n.45+21236C>T | |
| ENST00000341776.6:c.45+21236C>T | ENSP00000341280.2:n.45+21236C>T | |
| ENST00000397311.4:c.-472+18856C>T | ENSP00000380478.3:n.-472+18856C>T | |
| NM_001267040.1:c.-472+18856C>T | NP_001253969.1:n.-472+18856C>T | |
| NM_004973.3:c.45+21236C>T | NP_004964.2:n.45+21236C>T | |
| XM_005249089.2:c.-330+18856C>T | XP_005249146.1:n.-330+18856C>T | |
| XM_011514578.1:c.-517+18856C>T | XP_011512880.1:n.-517+18856C>T | |
| XM_011514579.1:c.45+21236C>T | XP_011512881.1:n.45+21236C>T | |
| XM_011514580.1:c.45+21236C>T | XP_011512882.1:n.45+21236C>T | |
| XM_011514582.1:c.-194+21236C>T | XP_011512884.1:n.-194+21236C>T | |
| XM_011514579.3:c.45+21236C>T | XP_011512881.1:n.45+21236C>T | |
| XM_017010833.2:c.45+21236C>T | XP_016866322.1:n.45+21236C>T | |
| XM_017010834.2:c.-330+21236C>T | XP_016866323.1:n.-330+21236C>T | |
| NM_004973.4:c.45+21236C>T MANE Select | NP_004964.2:n.45+21236C>T |