Linked Data
dbSNP Id:
rs764023413
ExAC:
5:127673788 G / C
gnomAD v2:
5-127673788-G-C
gnomAD v4:
5-128338096-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338096G>C , CM000667.2:g.128338096G>C | GRCh38 |
| NC_000005.9:g.127673788G>C , CM000667.1:g.127673788G>C | GRCh37 |
| NC_000005.8:g.127701687G>C | NCBI36 |
| NG_008750.1:g.204948C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.283C>G | ||
| ENST00000703785.1:n.364C>G | ||
| ENST00000262464.9:c.3499C>G MANE Select | ENSP00000262464.4:p.Leu1167Val | |
| ENST00000262464.8:c.3499C>G | ENSP00000262464.4:p.Leu1167Val | |
| ENST00000507835.5:c.49C>G | ENSP00000426839.1:p.Leu17Val | |
| ENST00000508053.5:c.3499C>G | ENSP00000424571.1:p.Leu1167Val | |
| ENST00000508989.5:c.3400C>G | ENSP00000425596.1:p.Leu1134Val | |
| ENST00000619499.4:c.3496C>G | ENSP00000482132.1:p.Leu1166Val | |
| NM_001999.3:c.3499C>G | NP_001990.2:p.Leu1167Val | |
| XM_017009228.2:c.3346C>G | XP_016864717.1:p.Leu1116Val | |
| NM_001999.4:c.3499C>G MANE Select | NP_001990.2:p.Leu1167Val |