Linked Data
gnomAD v4:
5-14716810-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716810G>A , CM000667.2:g.14716810G>A | GRCh38 |
| NC_000005.9:g.14716919G>A , CM000667.1:g.14716919G>A | GRCh37 |
| NC_000005.8:g.14769919G>A | NCBI36 |
| NG_008273.1:g.159969C>T | |
| NG_008273.2:g.159976C>T | |
| NG_051625.1:g.61017G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1037C>T MANE Select | ENSP00000284268.6:p.Pro346Leu | |
| ENST00000284268.6:c.1037C>T | ENSP00000284268.6:p.Pro346Leu | |
| ENST00000502585.1:n.279C>T | ||
| NM_054027.4:c.1037C>T | NP_473368.1:p.Pro346Leu | |
| NM_054027.5:c.1037C>T | NP_473368.1:p.Pro346Leu | |
| XM_017009644.2:c.953C>T | XP_016865133.1:p.Pro318Leu | |
| NM_054027.6:c.1037C>T MANE Select | NP_473368.1:p.Pro346Leu |