Linked Data
dbSNP Id:
rs142233984
ExAC:
7:81603739 C / G
gnomAD v2:
7-81603739-C-G
gnomAD v3:
7-81974423-C-G
gnomAD v4:
7-81974423-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81974423C>G , CM000669.2:g.81974423C>G | GRCh38 |
| NC_000007.13:g.81603739C>G , CM000669.1:g.81603739C>G | GRCh37 |
| NC_000007.12:g.81441675C>G | NCBI36 |
| NG_009358.2:g.474293G>C , LRG_437:g.474293G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443883.2:c.2089+32G>C | ENSP00000409374.2:n.2089+32G>C | |
| ENST00000705961.1:c.1820+32G>C | ||
| ENST00000705962.1:c.1933+32G>C | ENSP00000516190.1:n.1933+32G>C | |
| ENST00000356860.8:c.2053+32G>C MANE Select | ENSP00000349320.3:n.2053+32G>C | |
| ENST00000356253.9:c.2089+32G>C | ENSP00000348589.5:n.2089+32G>C | |
| ENST00000356860.7:c.2053+32G>C | ENSP00000349320.3:n.2053+32G>C | |
| ENST00000443883.1:c.585+32G>C | ||
| NM_000722.3:c.2053+32G>C | NP_000713.2:n.2053+32G>C | |
| XM_005250570.1:c.2089+32G>C | XP_005250627.1:n.2089+32G>C | |
| XM_005250572.1:c.2038+32G>C | XP_005250629.1:n.2038+32G>C | |
| XM_005250573.1:c.2032+32G>C | XP_005250630.1:n.2032+32G>C | |
| XM_005250574.1:c.2017+32G>C | XP_005250631.1:n.2017+32G>C | |
| XM_006716118.1:c.2110+32G>C | XP_006716181.1:n.2110+32G>C | |
| XM_006716119.2:c.2035+32G>C | XP_006716182.1:n.2035+32G>C | |
| XM_006716120.2:c.1993+32G>C | XP_006716183.1:n.1993+32G>C | |
| XM_006716121.2:c.520+32G>C | XP_006716184.1:n.520+32G>C | |
| XM_011516570.1:c.2110+32G>C | XP_011514872.1:n.2110+32G>C | |
| XM_011516571.1:c.2095+32G>C | XP_011514873.1:n.2095+32G>C | |
| XM_011516572.1:c.2074+32G>C | XP_011514874.1:n.2074+32G>C | |
| XM_011516573.1:c.1879+32G>C | XP_011514875.1:n.1879+32G>C | |
| NM_001366867.1:c.2089+32G>C | NP_001353796.1:n.2089+32G>C | |
| XM_005250572.3:c.2038+32G>C | XP_005250629.1:n.2038+32G>C | |
| XM_005250573.3:c.2032+32G>C | XP_005250630.1:n.2032+32G>C | |
| XM_005250574.3:c.2017+32G>C | XP_005250631.1:n.2017+32G>C | |
| XM_006716118.3:c.2110+32G>C | XP_006716181.1:n.2110+32G>C | |
| XM_006716119.3:c.2035+32G>C | XP_006716182.1:n.2035+32G>C | |
| XM_006716120.3:c.1993+32G>C | XP_006716183.1:n.1993+32G>C | |
| XM_006716121.3:c.520+32G>C | XP_006716184.1:n.520+32G>C | |
| XM_011516570.3:c.2110+32G>C | XP_011514872.1:n.2110+32G>C | |
| XM_011516571.3:c.2095+32G>C | XP_011514873.1:n.2095+32G>C | |
| XM_011516572.3:c.2074+32G>C | XP_011514874.1:n.2074+32G>C | |
| XM_017012588.1:c.1936+32G>C | XP_016868077.1:n.1936+32G>C | |
| XR_001744873.2:n.2130+32G>C | ||
| XR_001744874.2:n.2037+32G>C | ||
| NM_000722.4:c.2053+32G>C MANE Select | NP_000713.2:n.2053+32G>C |