Linked Data
dbSNP Id:
rs4828696
gnomAD v2:
X-151581996-T-C
gnomAD v3:
X-152413524-T-C
gnomAD v4:
X-152413524-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.152413524T>C , CM000685.2:g.152413524T>C | GRCh38 |
| NC_000023.10:g.151581996T>C , CM000685.1:g.151581996T>C | GRCh37 |
| NC_000023.9:g.151332652T>C | NCBI36 |
| NG_007102.1:g.42835A>G | |
| NG_007102.2:g.42835A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370314.9:c.-27+37622A>G MANE Select | ENSP00000359337.4:n.-27+37622A>G | |
| ENST00000370314.8:c.-27+37622A>G | ENSP00000359337.4:n.-27+37622A>G | |
| NM_000808.3:c.-27+37622A>G | NP_000799.1:n.-27+37622A>G | |
| XM_005274659.1:c.-27+37622A>G | XP_005274716.1:n.-27+37622A>G | |
| XM_006724811.1:c.-27+37622A>G | XP_006724874.1:n.-27+37622A>G | |
| XM_011531133.1:c.-27+37622A>G | XP_011529435.1:n.-27+37622A>G | |
| XM_011531134.1:c.-27+37622A>G | XP_011529436.1:n.-27+37622A>G | |
| XM_006724811.3:c.-27+37622A>G | XP_006724874.1:n.-27+37622A>G | |
| NM_000808.4:c.-27+37622A>G MANE Select | NP_000799.1:n.-27+37622A>G |