Linked Data
dbSNP Id:
rs2284685
gnomAD v2:
12-109686782-G-C
gnomAD v3:
12-109248977-G-C
gnomAD v4:
12-109248977-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109248977G>C , CM000674.2:g.109248977G>C | GRCh38 |
| NC_000012.11:g.109686782G>C , CM000674.1:g.109686782G>C | GRCh37 |
| NC_000012.10:g.108171165G>C | NCBI36 |
| NG_046907.1:g.142794G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338432.12:c.5670-1007G>C MANE Select | ENSP00000341044.7:n.5670-1007G>C | |
| ENST00000338432.11:c.5670-1007G>C | ENSP00000341044.7:n.5670-1007G>C | |
| ENST00000377848.7:c.5670-1007G>C | ENSP00000367079.3:n.5670-1007G>C | |
| ENST00000377854.9:c.1668-1007G>C | ENSP00000367085.6:n.1668-1007G>C | |
| ENST00000396233.4:n.20G>C | ||
| ENST00000536440.2:c.306-1007G>C | ||
| ENST00000538526.5:c.1669-1007G>C | ||
| NM_001093.3:c.5670-1007G>C | NP_001084.3:n.5670-1007G>C | |
| XM_005253876.3:c.5670-1007G>C | XP_005253933.1:n.5670-1007G>C | |
| XM_006719365.2:c.5670-1007G>C | XP_006719428.1:n.5670-1007G>C | |
| XM_006719367.2:c.5064-1007G>C | XP_006719430.1:n.5064-1007G>C | |
| XM_011538259.1:c.5670-1007G>C | XP_011536561.1:n.5670-1007G>C | |
| XM_011538260.1:c.5670-1007G>C | XP_011536562.1:n.5670-1007G>C | |
| XM_011538261.1:c.5670-1007G>C | XP_011536563.1:n.5670-1007G>C | |
| XM_011538262.1:c.5670-1007G>C | XP_011536564.1:n.5670-1007G>C | |
| XM_011538263.1:c.5481-1007G>C | XP_011536565.1:n.5481-1007G>C | |
| XM_011538264.1:c.5043-1007G>C | XP_011536566.1:n.5043-1007G>C | |
| XR_944530.1:n.6417-1007G>C | ||
| XR_944531.1:n.6417-1007G>C | ||
| XR_944532.1:n.6417-1007G>C | ||
| XR_944533.1:n.6320-1007G>C | ||
| XM_005253876.4:c.5670-1007G>C | XP_005253933.1:n.5670-1007G>C | |
| XM_006719367.4:c.5064-1007G>C | XP_006719430.1:n.5064-1007G>C | |
| XM_011538259.2:c.5670-1007G>C | XP_011536561.1:n.5670-1007G>C | |
| XM_011538263.3:c.5481-1007G>C | XP_011536565.1:n.5481-1007G>C | |
| XM_011538264.3:c.5043-1007G>C | XP_011536566.1:n.5043-1007G>C | |
| XM_017019252.2:c.4875-1007G>C | XP_016874741.1:n.4875-1007G>C | |
| XR_002957320.1:n.6428-1007G>C | ||
| XR_002957321.1:n.6330-1007G>C | ||
| XR_002957322.1:n.5217-1007G>C | ||
| XR_944530.2:n.6428-1007G>C | ||
| XR_944532.3:n.6428-1007G>C | ||
| NM_001093.4:c.5670-1007G>C MANE Select | NP_001084.3:n.5670-1007G>C |