Linked Data
dbSNP Id:
rs758972110
gnomAD v2:
X-70329341-A-G
gnomAD v3:
X-71109491-A-G
gnomAD v4:
X-71109491-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71109491A>G , CM000685.2:g.71109491A>G | GRCh38 |
| NC_000023.10:g.70329341A>G , CM000685.1:g.70329341A>G | GRCh37 |
| NC_000023.9:g.70246066A>G | NCBI36 |
| NG_009088.1:g.7063T>C , LRG_150:g.7063T>C | |
| NG_021141.1:g.2298T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.595-101T>C | ENSP00000421262.2:n.595-101T>C | |
| ENST00000696903.1:n.646-101T>C | ||
| ENST00000374202.7:c.595-101T>C MANE Select | ENSP00000363318.3:n.595-101T>C | |
| ENST00000642473.1:n.959-101T>C | ||
| ENST00000644022.1:n.861-101T>C | ||
| ENST00000644708.1:n.1001-101T>C | ||
| ENST00000644911.1:n.1001-101T>C | ||
| ENST00000645266.1:c.595-101T>C | ENSP00000493734.1:n.595-101T>C | |
| ENST00000645518.1:c.595-101T>C | ENSP00000493986.1:n.595-101T>C | |
| ENST00000646106.1:c.595-101T>C | ENSP00000496437.1:n.595-101T>C | |
| ENST00000646505.1:c.595-101T>C | ENSP00000496673.1:n.595-101T>C | |
| ENST00000647492.1:c.595-101T>C | ENSP00000495340.1:n.595-101T>C | |
| ENST00000276110.6:n.1188-101T>C | ||
| ENST00000374188.7:c.-122-101T>C | ENSP00000363303.3:n.-122-101T>C | |
| ENST00000374202.6:c.595-101T>C | ENSP00000363318.2:n.595-101T>C | |
| ENST00000456850.6:c.25-101T>C | ENSP00000388967.2:n.25-101T>C | |
| ENST00000464642.5:c.463-101T>C | ENSP00000425233.1:n.463-101T>C | |
| ENST00000482750.5:c.8-101T>C | ||
| ENST00000512747.3:n.522-101T>C | ||
| NM_000206.2:c.595-101T>C , LRG_150t1:c.595-101T>C | NP_000197.1:n.595-101T>C | |
| NM_000206.3:c.595-101T>C MANE Select | NP_000197.1:n.595-101T>C |