Linked Data
dbSNP Id:
rs2483058
gnomAD v3:
1-206453482-G-C
gnomAD v4:
1-206453482-G-C
MyVariant Identifiers:
chr1:g.206453482G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206453482G>C , CM000663.2:g.206453482G>C | GRCh38 |
| NG_033804.1:g.252810G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000573034.8:c.2360+102G>C MANE Select | ENSP00000459615.2:n.2360+102G>C | |
| ENST00000573034.7:c.2360+102G>C | ENSP00000459615.2:n.2360+102G>C | |
| ENST00000604010.1:c.182+102G>C | ENSP00000474818.1:n.182+102G>C | |
| ENST00000604925.5:c.507+102G>C | ||
| ENST00000605476.5:c.1202+102G>C | ENSP00000474270.1:n.1202+102G>C | |
| ENST00000605610.5:c.2357+102G>C | ENSP00000473954.1:n.2357+102G>C | |
| ENST00000624873.3:c.2357+102G>C | ENSP00000485517.1:n.2357+102G>C | |
| NM_001170637.3:c.2357+102G>C | NP_001164108.1:n.2357+102G>C | |
| NM_001300952.1:c.2357+102G>C | NP_001287881.1:n.2357+102G>C | |
| NM_015326.4:c.2360+102G>C | NP_056141.2:n.2360+102G>C | |
| XM_005277510.1:c.2360+102G>C | XP_005277567.1:n.2360+102G>C | |
| XM_005277511.1:c.2357+102G>C | XP_005277568.1:n.2357+102G>C | |
| XM_005277514.1:c.2360+102G>C | XP_005277571.1:n.2360+102G>C | |
| XM_005277515.1:c.2357+102G>C | XP_005277572.1:n.2357+102G>C | |
| XM_011509354.1:c.2360+102G>C | XP_011507656.1:n.2360+102G>C | |
| XM_011509355.1:c.2357+102G>C | XP_011507657.1:n.2357+102G>C | |
| XM_011509356.1:c.2360+102G>C | XP_011507658.1:n.2360+102G>C | |
| XM_011509357.1:c.1901+102G>C | XP_011507659.1:n.1901+102G>C | |
| XM_011509358.1:c.1901+102G>C | XP_011507660.1:n.1901+102G>C | |
| XM_011509359.1:c.2360+102G>C | XP_011507661.1:n.2360+102G>C | |
| XM_005277510.3:c.2360+102G>C | XP_005277567.1:n.2360+102G>C | |
| XM_005277511.3:c.2357+102G>C | XP_005277568.1:n.2357+102G>C | |
| XM_005277514.2:c.2360+102G>C | XP_005277571.1:n.2360+102G>C | |
| XM_005277515.2:c.2357+102G>C | XP_005277572.1:n.2357+102G>C | |
| XM_011509354.2:c.2360+102G>C | XP_011507656.1:n.2360+102G>C | |
| XM_011509355.2:c.2357+102G>C | XP_011507657.1:n.2357+102G>C | |
| XM_011509356.3:c.2360+102G>C | XP_011507658.1:n.2360+102G>C | |
| XM_011509359.2:c.2360+102G>C | XP_011507661.1:n.2360+102G>C | |
| XM_017000838.2:c.1901+102G>C | XP_016856327.1:n.1901+102G>C | |
| XM_017000840.1:c.1901+102G>C | XP_016856329.1:n.1901+102G>C | |
| XM_017000841.2:c.2357+102G>C | XP_016856330.1:n.2357+102G>C | |
| XM_024446014.1:c.2267+102G>C | XP_024301782.1:n.2267+102G>C | |
| XM_024446015.1:c.2267+102G>C | XP_024301783.1:n.2267+102G>C | |
| XM_024446016.1:c.2360+102G>C | XP_024301784.1:n.2360+102G>C | |
| NM_001170637.4:c.2357+102G>C | NP_001164108.1:n.2357+102G>C | |
| NM_001300952.2:c.2357+102G>C | NP_001287881.1:n.2357+102G>C | |
| NM_001377444.1:c.2360+102G>C | NP_001364373.1:n.2360+102G>C | |
| NM_001377445.1:c.2360+102G>C | NP_001364374.1:n.2360+102G>C | |
| NM_001377446.1:c.2357+102G>C | NP_001364375.1:n.2357+102G>C | |
| NM_001377447.1:c.2360+102G>C | NP_001364376.1:n.2360+102G>C | |
| NM_015326.5:c.2360+102G>C MANE Select | NP_056141.2:n.2360+102G>C |