Linked Data
dbSNP Id:
rs10498760
gnomAD v2:
6-45363796-C-A
gnomAD v3:
6-45396059-C-A
gnomAD v4:
6-45396059-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45396059C>A , CM000668.2:g.45396059C>A | GRCh38 |
| NC_000006.11:g.45363796C>A , CM000668.1:g.45363796C>A | GRCh37 |
| NC_000006.10:g.45471774C>A | NCBI36 |
| NG_008020.1:g.72743C>A | |
| NG_008020.2:g.72743C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647337.2:c.59-26534C>A MANE Select | ENSP00000495497.1:n.59-26534C>A | |
| ENST00000371432.7:c.59-26534C>A | ENSP00000360486.4:n.59-26534C>A | |
| ENST00000371436.10:c.59-26534C>A | ENSP00000360491.6:n.59-26534C>A | |
| ENST00000371438.5:c.59-26534C>A | ENSP00000360493.1:n.59-26534C>A | |
| ENST00000465038.6:c.59-26534C>A | ENSP00000420707.2:n.59-26534C>A | |
| ENST00000483377.5:c.59-35804C>A | ENSP00000461357.1:n.59-35804C>A | |
| ENST00000576263.5:c.59-26534C>A | ENSP00000458178.1:n.59-26534C>A | |
| NM_001015051.3:c.59-26534C>A | NP_001015051.3:n.59-26534C>A | |
| NM_001024630.3:c.59-26534C>A | NP_001019801.3:n.59-26534C>A | |
| XM_011514960.1:c.263-26534C>A | XP_011513262.1:n.263-26534C>A | |
| XM_011514961.1:c.263-26534C>A | XP_011513263.1:n.263-26534C>A | |
| XM_011514962.1:c.263-26534C>A | XP_011513264.1:n.263-26534C>A | |
| XM_011514963.1:c.263-26534C>A | XP_011513265.1:n.263-26534C>A | |
| XM_011514964.1:c.263-26534C>A | XP_011513266.1:n.263-26534C>A | |
| XM_011514965.1:c.263-26534C>A | XP_011513267.1:n.263-26534C>A | |
| XM_011514967.1:c.263-26534C>A | XP_011513269.1:n.263-26534C>A | |
| XM_011514968.1:c.263-26534C>A | XP_011513270.1:n.263-26534C>A | |
| XR_926323.1:n.775-26534C>A | ||
| NM_001024630.4:c.59-26534C>A MANE Select | NP_001019801.3:n.59-26534C>A | |
| NM_001015051.4:c.59-26534C>A | NP_001015051.3:n.59-26534C>A |