Linked Data
dbSNP Id:
rs748362063
ExAC:
14:91745668 T / A
gnomAD v2:
14-91745668-T-A
gnomAD v4:
14-91279324-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91279324T>A , CM000676.2:g.91279324T>A | GRCh38 |
| NC_000014.8:g.91745668T>A , CM000676.1:g.91745668T>A | GRCh37 |
| NC_000014.7:g.90815421T>A | NCBI36 |
| NG_033118.1:g.143521A>T | |
| NG_033118.2:g.143521A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.4700-18A>T MANE Select | ENSP00000374507.6:n.4700-18A>T | |
| ENST00000331194.8:c.272-18A>T | ENSP00000330332.8:n.272-18A>T | |
| ENST00000334448.5:n.512-18A>T | ||
| ENST00000389857.10:c.4700-18A>T | ENSP00000374507.6:n.4700-18A>T | |
| ENST00000556726.5:c.928-18A>T | ||
| ENST00000557455.1:n.654A>T | ||
| NM_001080414.3:c.4700-18A>T | NP_001073883.2:n.4700-18A>T | |
| XM_011536796.1:c.4592-18A>T | XP_011535098.1:n.4592-18A>T | |
| XR_429316.2:n.4975-18A>T | ||
| XM_011536796.2:c.4592-18A>T | XP_011535098.1:n.4592-18A>T | |
| XM_017021336.1:c.1781-18A>T | XP_016876825.1:n.1781-18A>T | |
| XR_429316.4:n.4973-18A>T | ||
| NM_001080414.4:c.4700-18A>T MANE Select | NP_001073883.2:n.4700-18A>T |