Linked Data
dbSNP Id:
rs45450798
gnomAD v2:
18-12792940-C-G
gnomAD v3:
18-12792941-C-G
gnomAD v4:
18-12792941-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12792941C>G , CM000680.2:g.12792941C>G | GRCh38 |
| NC_000018.9:g.12792940C>G , CM000680.1:g.12792940C>G | GRCh37 |
| NC_000018.8:g.12782940C>G | NCBI36 |
| NG_029116.1:g.96395G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309660.10:c.*1337G>C MANE Select | ENSP00000311857.3:n.*1337G>C | |
| ENST00000309660.9:c.*1337G>C | ENSP00000311857.3:n.*1337G>C | |
| ENST00000327283.7:c.1142+1443G>C | ENSP00000320298.3:n.1142+1443G>C | |
| ENST00000353319.8:c.1041-7097G>C | ENSP00000320546.3:n.1041-7097G>C | |
| ENST00000585666.5:c.387+1443G>C | ||
| ENST00000587703.5:c.417+1443G>C | ||
| ENST00000591115.5:c.1211+1443G>C | ENSP00000466936.1:n.1211+1443G>C | |
| ENST00000591497.5:c.*1337G>C | ENSP00000467823.1:n.*1337G>C | |
| ENST00000591901.5:c.379+541G>C | ||
| NM_001207013.1:c.1211+1443G>C | NP_001193942.1:n.1211+1443G>C | |
| NM_001308287.1:c.*1337G>C | NP_001295216.1:n.*1337G>C | |
| NM_002828.3:c.*1337G>C | NP_002819.2:n.*1337G>C | |
| NM_080422.2:c.1142+1443G>C | NP_536347.1:n.1142+1443G>C | |
| NM_080423.2:c.1041-7097G>C | NP_536348.1:n.1041-7097G>C | |
| XM_005258125.2:c.*41+541G>C | XP_005258182.1:n.*41+541G>C | |
| XM_005258125.4:c.*41+541G>C | XP_005258182.1:n.*41+541G>C | |
| XM_017025884.1:c.*41+541G>C | XP_016881373.1:n.*41+541G>C | |
| XM_017025887.2:c.*41+541G>C | XP_016881376.1:n.*41+541G>C | |
| XM_017025888.2:c.845+1443G>C | XP_016881377.1:n.845+1443G>C | |
| XM_024451228.1:c.1007+1443G>C | XP_024306996.1:n.1007+1443G>C | |
| NM_002828.4:c.*1337G>C MANE Select | NP_002819.2:n.*1337G>C | |
| NM_001207013.2:c.1211+1443G>C | NP_001193942.1:n.1211+1443G>C | |
| NM_080422.3:c.1142+1443G>C | NP_536347.1:n.1142+1443G>C | |
| NM_080423.3:c.1041-7097G>C | NP_536348.1:n.1041-7097G>C |