Linked Data
dbSNP Id:
rs7243299
gnomAD v2:
18-7755771-T-C
gnomAD v3:
18-7755773-T-C
gnomAD v4:
18-7755773-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7755773T>C , CM000680.2:g.7755773T>C | GRCh38 |
| NC_000018.9:g.7755771T>C , CM000680.1:g.7755771T>C | GRCh37 |
| NC_000018.8:g.7745771T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000580170.6:c.74-18376T>C MANE Select | ENSP00000463325.1:n.74-18376T>C | |
| ENST00000332175.12:c.74-18376T>C | ENSP00000331418.8:n.74-18376T>C | |
| ENST00000400053.8:c.-114+489T>C | ENSP00000382927.4:n.-114+489T>C | |
| ENST00000580170.5:c.74-18376T>C | ENSP00000463325.1:n.74-18376T>C | |
| NM_001105244.1:c.74-18376T>C | NP_001098714.1:n.74-18376T>C | |
| NM_002845.3:c.74-18376T>C | NP_002836.3:n.74-18376T>C | |
| XM_006722335.2:c.74-18376T>C | XP_006722398.1:n.74-18376T>C | |
| XM_006722337.2:c.74-18376T>C | XP_006722400.1:n.74-18376T>C | |
| XM_011525708.1:c.74-18376T>C | XP_011524010.1:n.74-18376T>C | |
| XM_011525709.1:c.74-18376T>C | XP_011524011.1:n.74-18376T>C | |
| XM_011525710.1:c.74-18376T>C | XP_011524012.1:n.74-18376T>C | |
| XM_011525711.1:c.74-18376T>C | XP_011524013.1:n.74-18376T>C | |
| XM_011525712.1:c.74-18376T>C | XP_011524014.1:n.74-18376T>C | |
| XM_011525713.1:c.-261T>C | XP_011524015.1:n.-261T>C | |
| XM_011525718.1:c.74-18376T>C | XP_011524020.1:n.74-18376T>C | |
| XM_011525719.1:c.74-18376T>C | XP_011524021.1:n.74-18376T>C | |
| XM_011525720.1:c.74-18376T>C | XP_011524022.1:n.74-18376T>C | |
| XM_011525721.1:c.74-18376T>C | XP_011524023.1:n.74-18376T>C | |
| XR_430046.2:n.572-18376T>C | ||
| XM_011525708.2:c.74-18376T>C | XP_011524010.1:n.74-18376T>C | |
| XM_011525710.2:c.74-18376T>C | XP_011524012.1:n.74-18376T>C | |
| XM_011525712.2:c.74-18376T>C | XP_011524014.1:n.74-18376T>C | |
| XM_011525713.2:c.-261T>C | XP_011524015.1:n.-261T>C | |
| XM_017025894.1:c.58+7278T>C | XP_016881383.1:n.58+7278T>C | |
| XM_017025895.1:c.58+7278T>C | XP_016881384.1:n.58+7278T>C | |
| XM_017025896.1:c.58+7278T>C | XP_016881385.1:n.58+7278T>C | |
| XM_017025897.1:c.58+7278T>C | XP_016881386.1:n.58+7278T>C | |
| XM_017025898.1:c.58+7278T>C | XP_016881387.1:n.58+7278T>C | |
| XM_017025899.1:c.58+7278T>C | XP_016881388.1:n.58+7278T>C | |
| XM_017025900.1:c.58+7278T>C | XP_016881389.1:n.58+7278T>C | |
| XM_017025901.1:c.58+7278T>C | XP_016881390.1:n.58+7278T>C | |
| XM_017025902.1:c.58+7278T>C | XP_016881391.1:n.58+7278T>C | |
| XM_017025903.1:c.58+7278T>C | XP_016881392.1:n.58+7278T>C | |
| XM_017025904.1:c.58+7278T>C | XP_016881393.1:n.58+7278T>C | |
| XM_017025905.1:c.-261T>C | XP_016881394.1:n.-261T>C | |
| XM_017025910.1:c.58+7278T>C | XP_016881399.1:n.58+7278T>C | |
| XM_017025911.1:c.74-18376T>C | XP_016881400.1:n.74-18376T>C | |
| XM_017025912.1:c.58+7278T>C | XP_016881401.1:n.58+7278T>C | |
| XR_001753258.1:n.115+7278T>C | ||
| NM_001105244.2:c.74-18376T>C MANE Select | NP_001098714.1:n.74-18376T>C | |
| NM_002845.4:c.74-18376T>C | NP_002836.3:n.74-18376T>C |