Linked Data
dbSNP Id:
rs765154460
ExAC:
9:95481699 G / C
gnomAD v2:
9-95481699-G-C
gnomAD v3:
9-92719417-G-C
gnomAD v4:
9-92719417-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92719417G>C , CM000671.2:g.92719417G>C | GRCh38 |
| NC_000009.11:g.95481699G>C , CM000671.1:g.95481699G>C | GRCh37 |
| NC_000009.10:g.94521520G>C | NCBI36 |
| NG_033908.1:g.50385C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1228C>G MANE Select | ENSP00000349351.6:p.Leu410Val | |
| ENST00000356884.10:c.1228C>G | ENSP00000349351.6:p.Leu410Val | |
| ENST00000375512.3:c.1228C>G | ENSP00000364662.3:p.Leu410Val | |
| NM_001003800.1:c.1228C>G | NP_001003800.1:p.Leu410Val | |
| NM_015250.3:c.1228C>G | NP_056065.1:p.Leu410Val | |
| XM_017014551.1:c.1309C>G | XP_016870040.1:p.Leu437Val | |
| NM_001003800.2:c.1228C>G MANE Select | NP_001003800.1:p.Leu410Val | |
| NM_015250.4:c.1228C>G | NP_056065.1:p.Leu410Val |