Linked Data
dbSNP Id:
rs764682780
ExAC:
14:23889248 G / C
gnomAD v2:
14-23889248-G-C
gnomAD v4:
14-23420039-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420039G>C , CM000676.2:g.23420039G>C | GRCh38 |
| NC_000014.8:g.23889248G>C , CM000676.1:g.23889248G>C | GRCh37 |
| NC_000014.7:g.22959088G>C | NCBI36 |
| NG_007884.1:g.20623C>G , LRG_384:g.20623C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3532C>G MANE Select | ENSP00000347507.3:p.Leu1178Val | |
| ENST00000355349.3:c.3532C>G | ENSP00000347507.3:p.Leu1178Val | |
| NM_000257.3:c.3532C>G | NP_000248.2:p.Leu1178Val | |
| XM_017021340.1:c.3532C>G | XP_016876829.1:p.Leu1178Val | |
| NM_000257.4:c.3532C>G MANE Select | NP_000248.2:p.Leu1178Val |