Linked Data
ClinVar Variation Id:
263052
dbSNP Id:
rs2242219
ExAC:
5:180036871 C / G
gnomAD v2:
5-180036871-C-G
gnomAD v3:
5-180609871-C-G
gnomAD v4:
5-180609871-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180609871C>G , CM000667.2:g.180609871C>G | GRCh38 |
| NC_000005.9:g.180036871C>G , CM000667.1:g.180036871C>G | GRCh37 |
| NC_000005.8:g.179969477C>G | NCBI36 |
| NG_011536.1:g.44754G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261937.11:c.3807+34G>C MANE Select | ENSP00000261937.6:n.3807+34G>C | |
| ENST00000261937.10:c.3807+34G>C | ENSP00000261937.6:n.3807+34G>C | |
| ENST00000393347.7:c.3807+34G>C | ENSP00000377016.3:n.3807+34G>C | |
| ENST00000502603.5:n.507+34G>C | ||
| ENST00000502649.5:c.3807+34G>C | ENSP00000426057.1:n.3807+34G>C | |
| ENST00000507059.5:n.4191G>C | ||
| ENST00000619105.4:c.*2750+34G>C | ENSP00000481134.1:n.*2750+34G>C | |
| NM_002020.4:c.3807+34G>C | NP_002011.2:n.3807+34G>C | |
| NM_182925.4:c.3807+34G>C | NP_891555.2:n.3807+34G>C | |
| XM_011534477.1:c.4056+34G>C | XP_011532779.1:n.4056+34G>C | |
| XM_011534478.1:c.4038+34G>C | XP_011532780.1:n.4038+34G>C | |
| XM_011534479.1:c.4056+34G>C | XP_011532781.1:n.4056+34G>C | |
| XM_011534480.1:c.4056+34G>C | XP_011532782.1:n.4056+34G>C | |
| XM_011534481.1:c.4056+34G>C | XP_011532783.1:n.4056+34G>C | |
| XM_011534482.1:c.3825+34G>C | XP_011532784.1:n.3825+34G>C | |
| XM_011534483.1:c.3747+34G>C | XP_011532785.1:n.3747+34G>C | |
| XM_011534484.1:c.3348+34G>C | XP_011532786.1:n.3348+34G>C | |
| XR_941095.1:n.4093+34G>C | ||
| NM_001354989.1:c.3807+34G>C | NP_001341918.1:n.3807+34G>C | |
| XM_011534478.3:c.4038+34G>C | XP_011532780.1:n.4038+34G>C | |
| XM_011534484.2:c.3348+34G>C | XP_011532786.1:n.3348+34G>C | |
| XM_017009263.1:c.4038+34G>C | XP_016864752.1:n.4038+34G>C | |
| XM_017009264.2:c.4038+34G>C | XP_016864753.1:n.4038+34G>C | |
| XM_017009265.1:c.4038+34G>C | XP_016864754.1:n.4038+34G>C | |
| XM_017009266.1:c.4038+34G>C | XP_016864755.1:n.4038+34G>C | |
| XM_017009267.2:c.4038+34G>C | XP_016864756.1:n.4038+34G>C | |
| XM_017009268.1:c.3729+34G>C | XP_016864757.1:n.3729+34G>C | |
| XR_001742050.2:n.4297+34G>C | ||
| NM_182925.5:c.3807+34G>C MANE Select | NP_891555.2:n.3807+34G>C | |
| NM_001354989.2:c.3807+34G>C | NP_001341918.1:n.3807+34G>C | |
| NM_002020.5:c.3807+34G>C | NP_002011.2:n.3807+34G>C |