Linked Data
ClinVar Variation Id:
303745
ClinVar RCV Id:
RCV000272551
RCV000285187
RCV000309064
RCV000315800
RCV001093987
RCV001093988
RCV001105685
RCV001820890
dbSNP Id:
rs547932593
gnomAD v2:
11-17410197-C-G
gnomAD v3:
11-17388650-C-G
gnomAD v4:
11-17388650-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17388650C>G , CM000673.2:g.17388650C>G | GRCh38 |
| NC_000011.9:g.17410197C>G , CM000673.1:g.17410197C>G | GRCh37 |
| NC_000011.8:g.17366773C>G | NCBI36 |
| NG_012446.1:g.5010G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528992.2:c.-214+191G>C | ENSP00000436479.2:n.-214+191G>C | |
| ENST00000682350.1:c.-17+191G>C | ENSP00000508090.1:n.-17+191G>C | |
| ENST00000682764.1:c.-17+191G>C | ENSP00000506780.1:n.-17+191G>C | |
| ENST00000339994.5:c.-559G>C MANE Select | ENSP00000345708.4:n.-559G>C | |
| ENST00000339994.4:c.-559G>C | ENSP00000345708.4:n.-559G>C | |
| ENST00000526912.1:c.-76+191G>C | ENSP00000432729.1:n.-76+191G>C | |
| ENST00000528731.1:c.-17+524G>C | ENSP00000434755.1:n.-17+524G>C | |
| ENST00000528992.1:c.32+191G>C | ||
| NM_000525.3:c.-559G>C | NP_000516.3:n.-559G>C | |
| NM_001166290.1:c.-17+524G>C | NP_001159762.1:n.-17+524G>C | |
| XM_006718226.2:c.-17+191G>C | XP_006718289.1:n.-17+191G>C | |
| XM_006718226.3:c.-17+191G>C | XP_006718289.1:n.-17+191G>C | |
| XM_017017680.1:c.-17+640G>C | XP_016873169.1:n.-17+640G>C | |
| NM_001166290.2:c.-17+524G>C | NP_001159762.1:n.-17+524G>C | |
| NM_001377296.1:c.-76+191G>C | NP_001364225.1:n.-76+191G>C | |
| NM_001377297.1:c.-17+191G>C | NP_001364226.1:n.-17+191G>C | |
| NM_000525.4:c.-559G>C MANE Select | NP_000516.3:n.-559G>C |