Linked Data
dbSNP Id:
rs2664170
gnomAD v2:
X-153945602-G-A
gnomAD v3:
X-154717327-G-A
gnomAD v4:
X-154717327-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154717327G>A , CM000685.2:g.154717327G>A | GRCh38 |
| NC_000023.10:g.153945602G>A , CM000685.1:g.153945602G>A | GRCh37 |
| NC_000023.9:g.153598796G>A | NCBI36 |
| NG_012834.2:g.38747C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424127.3:c.73-998C>T MANE Select | ENSP00000399588.2:n.73-998C>T | |
| ENST00000369568.8:c.73-998C>T | ENSP00000358581.4:n.73-998C>T | |
| ENST00000369575.7:c.73-998C>T | ENSP00000358588.3:n.73-998C>T | |
| ENST00000424127.2:c.73-998C>T | ENSP00000399588.2:n.73-998C>T | |
| ENST00000496390.5:n.93-998C>T | ||
| NM_001081573.2:c.73-998C>T | NP_001075042.1:n.73-998C>T | |
| NM_001282283.1:c.73-998C>T | NP_001269212.1:n.73-998C>T | |
| NM_080612.3:c.73-998C>T | NP_542179.1:n.73-998C>T | |
| NR_104114.1:n.93-998C>T | ||
| XM_005274648.1:c.73-998C>T | XP_005274705.1:n.73-998C>T | |
| XM_006724804.1:c.73-998C>T | XP_006724867.1:n.73-998C>T | |
| XM_006724806.2:c.73-998C>T | XP_006724869.1:n.73-998C>T | |
| XM_011531103.1:c.73-998C>T | XP_011529405.1:n.73-998C>T | |
| XM_011531104.1:c.73-998C>T | XP_011529406.1:n.73-998C>T | |
| XM_011531105.1:c.73-998C>T | XP_011529407.1:n.73-998C>T | |
| XM_011531106.1:c.73-998C>T | XP_011529408.1:n.73-998C>T | |
| XR_938505.1:n.98-998C>T | ||
| XM_017029276.1:c.73-998C>T | XP_016884765.1:n.73-998C>T | |
| XR_001755655.1:n.98-998C>T | ||
| NM_001081573.3:c.73-998C>T MANE Select | NP_001075042.1:n.73-998C>T | |
| NM_001282283.2:c.73-998C>T | NP_001269212.1:n.73-998C>T | |
| NM_080612.4:c.73-998C>T | NP_542179.1:n.73-998C>T | |
| NR_104114.2:n.76-998C>T |