Linked Data
dbSNP Id:
rs778617973
ExAC:
X:105278176 T / C
gnomAD v2:
X-105278176-T-C
gnomAD v4:
X-106034185-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106034185T>C , CM000685.2:g.106034185T>C | GRCh38 |
| NC_000023.10:g.105278176T>C , CM000685.1:g.105278176T>C | GRCh37 |
| NC_000023.9:g.105164832T>C | NCBI36 |
| NG_021252.1:g.9543A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372563.2:c.1044+50A>G MANE Select | ENSP00000361644.1:n.1044+50A>G | |
| ENST00000327674.8:c.1044+50A>G | ENSP00000329374.4:n.1044+50A>G | |
| ENST00000372563.1:c.1044+50A>G | ENSP00000361644.1:n.1044+50A>G | |
| ENST00000487487.1:n.317+50A>G | ||
| NM_000354.5:c.1044+50A>G | NP_000345.2:n.1044+50A>G | |
| XM_005262180.3:c.1044+50A>G | XP_005262237.1:n.1044+50A>G | |
| XM_006724683.1:c.1044+50A>G | XP_006724746.1:n.1044+50A>G | |
| XM_005262180.4:c.1044+50A>G | XP_005262237.1:n.1044+50A>G | |
| XM_006724683.2:c.1044+50A>G | XP_006724746.1:n.1044+50A>G | |
| NM_000354.6:c.1044+50A>G MANE Select | NP_000345.2:n.1044+50A>G |