Linked Data
dbSNP Id:
rs1173203596
gnomAD v2:
5-6620289-G-C
gnomAD v3:
5-6620176-G-C
gnomAD v4:
5-6620176-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.6620176G>C , CM000667.2:g.6620176G>C | GRCh38 |
| NC_000005.9:g.6620289G>C , CM000667.1:g.6620289G>C | GRCh37 |
| NC_000005.8:g.6673289G>C | NCBI36 |
| NG_028215.1:g.18185C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264670.11:c.745C>G MANE Select | ENSP00000264670.6:p.Leu249Val | |
| ENST00000264670.10:c.745C>G | ENSP00000264670.6:p.Leu249Val | |
| ENST00000504374.5:c.*51C>G | ENSP00000421783.1:n.*51C>G | |
| ENST00000505264.1:n.412C>G | ||
| ENST00000505892.5:n.1314C>G | ||
| ENST00000506139.5:c.640C>G | ENSP00000420957.1:p.Leu214Val | |
| NM_001193455.1:c.640C>G | NP_001180384.1:p.Leu214Val | |
| NM_017755.5:c.745C>G | NP_060225.4:p.Leu249Val | |
| NR_037947.1:n.1041C>G | ||
| NM_017755.6:c.745C>G MANE Select | NP_060225.4:p.Leu249Val | |
| NM_001193455.2:c.640C>G | NP_001180384.1:p.Leu214Val | |
| NR_037947.2:n.725C>G |