Linked Data
gnomAD v4:
14-75003552-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003552C>G , CM000676.2:g.75003552C>G | GRCh38 |
| NC_000014.8:g.75470255C>G , CM000676.1:g.75470255C>G | GRCh37 |
| NC_000014.7:g.74540008C>G | NCBI36 |
| NG_013333.1:g.5644C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.286C>G MANE Select | ENSP00000266126.5:p.Leu96Val | |
| ENST00000266126.9:c.286C>G | ENSP00000266126.5:p.Leu96Val | |
| ENST00000553401.5:c.259C>G | ENSP00000451681.1:p.Leu87Val | |
| ENST00000553539.1:n.581C>G | ||
| ENST00000555522.1:n.344C>G | ||
| ENST00000556028.5:c.286C>G | ENSP00000452311.1:p.Leu96Val | |
| NM_014239.3:c.286C>G | NP_055054.1:p.Leu96Val | |
| NM_014239.4:c.286C>G MANE Select | NP_055054.1:p.Leu96Val |