Linked Data
ClinVar Variation Id:
2887377
ClinVar RCV Id:
RCV003722341
dbSNP Id:
rs562457801
ExAC:
14:91739014 G / A
gnomAD v2:
14-91739014-G-A
gnomAD v3:
14-91272670-G-A
gnomAD v4:
14-91272670-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272670G>A , CM000676.2:g.91272670G>A | GRCh38 |
| NC_000014.8:g.91739014G>A , CM000676.1:g.91739014G>A | GRCh37 |
| NC_000014.7:g.90808767G>A | NCBI36 |
| NG_033118.1:g.150175C>T | |
| NG_033118.2:g.150175C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6042C>T MANE Select | ENSP00000374507.6:p.Pro2014= | |
| ENST00000331194.8:c.1476C>T | ENSP00000330332.8:p.Pro492= | |
| ENST00000389857.10:c.6042C>T | ENSP00000374507.6:p.Pro2014= | |
| ENST00000556726.5:c.2270C>T | ||
| NM_001080414.3:c.6042C>T | NP_001073883.2:p.Pro2014= | |
| XM_011536796.1:c.5934C>T | XP_011535098.1:p.Pro1978= | |
| XM_011536796.2:c.5934C>T | XP_011535098.1:p.Pro1978= | |
| XM_017021336.1:c.3123C>T | XP_016876825.1:p.Pro1041= | |
| NM_001080414.4:c.6042C>T MANE Select | NP_001073883.2:p.Pro2014= |