Linked Data
dbSNP Id:
rs7801190
gnomAD v2:
7-100458093-C-G
gnomAD v3:
7-100860471-C-G
gnomAD v4:
7-100860471-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100860471C>G , CM000669.2:g.100860471C>G | GRCh38 |
| NC_000007.13:g.100458093C>G , CM000669.1:g.100458093C>G | GRCh37 |
| NC_000007.12:g.100296029C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354161.8:c.1218+239C>G MANE Select | ENSP00000275730.4:n.1218+239C>G | |
| ENST00000354161.7:c.1218+239C>G | ENSP00000275730.4:n.1218+239C>G | |
| ENST00000415287.5:c.951+239C>G | ENSP00000413796.1:n.951+239C>G | |
| ENST00000416675.5:c.642+239C>G | ENSP00000410692.1:n.642+239C>G | |
| ENST00000418037.5:c.426+239C>G | ENSP00000406560.1:n.426+239C>G | |
| ENST00000448342.5:c.*176+239C>G | ENSP00000401583.1:n.*176+239C>G | |
| ENST00000467972.5:n.2502+239C>G | ||
| ENST00000475623.1:n.367-46C>G | ||
| ENST00000475687.5:n.2197+239C>G | ||
| ENST00000487651.5:n.1736C>G | ||
| ENST00000540482.5:c.1218+239C>G | ENSP00000443702.1:n.1218+239C>G | |
| NM_001267812.1:c.1218+239C>G | NP_001254741.1:n.1218+239C>G | |
| NM_001267814.1:c.951+239C>G | NP_001254743.1:n.951+239C>G | |
| NM_020246.3:c.1218+239C>G | NP_064631.2:n.1218+239C>G | |
| XM_005250502.2:c.951+239C>G | XP_005250559.1:n.951+239C>G | |
| XM_005250504.3:c.144+239C>G | XP_005250561.1:n.144+239C>G | |
| XM_006716054.2:c.951+239C>G | XP_006716117.1:n.951+239C>G | |
| XM_006716055.2:c.909+239C>G | XP_006716118.1:n.909+239C>G | |
| XM_011516413.1:c.783+239C>G | XP_011514715.1:n.783+239C>G | |
| XM_011516414.1:c.642+239C>G | XP_011514716.1:n.642+239C>G | |
| NM_001363493.1:c.1218+239C>G | NP_001350422.1:n.1218+239C>G | |
| NM_001363494.1:c.789+239C>G | NP_001350423.1:n.789+239C>G | |
| XM_005250504.4:c.144+239C>G | XP_005250561.1:n.144+239C>G | |
| XM_006716055.3:c.909+239C>G | XP_006716118.1:n.909+239C>G | |
| NM_020246.4:c.1218+239C>G MANE Select | NP_064631.2:n.1218+239C>G | |
| NM_001267814.2:c.951+239C>G | NP_001254743.1:n.951+239C>G | |
| NM_001363493.2:c.1218+239C>G | NP_001350422.1:n.1218+239C>G | |
| NM_001267812.2:c.1218+239C>G | NP_001254741.1:n.1218+239C>G |