Linked Data
dbSNP Id:
rs1163650507
gnomAD v2:
1-197057509-T-C
gnomAD v3:
1-197088379-T-C
gnomAD v4:
1-197088379-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197088379T>C , CM000663.2:g.197088379T>C | GRCh38 |
| NC_000001.10:g.197057509T>C , CM000663.1:g.197057509T>C | GRCh37 |
| NC_000001.9:g.195324132T>C | NCBI36 |
| NG_015867.1:g.63316A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.3325A>G | ||
| ENST00000367409.9:c.10038A>G MANE Select | ENSP00000356379.4:p.Leu3346= | |
| ENST00000680265.1:c.10260A>G | ENSP00000505384.1:p.Leu3420= | |
| ENST00000680710.1:c.10014A>G | ENSP00000506676.1:p.Leu3338= | |
| ENST00000294732.11:c.5283A>G | ENSP00000294732.7:p.Leu1761= | |
| ENST00000367408.5:c.3033A>G | ENSP00000356378.1:p.Leu1011= | |
| ENST00000367409.8:c.10038A>G | ENSP00000356379.4:p.Leu3346= | |
| ENST00000612785.1:c.3996A>G | ENSP00000479244.1:p.Leu1332= | |
| NM_001206846.1:c.5283A>G | NP_001193775.1:p.Leu1761= | |
| NM_018136.4:c.10038A>G | NP_060606.3:p.Leu3346= | |
| NM_018136.5:c.10038A>G MANE Select | NP_060606.3:p.Leu3346= | |
| NM_001206846.2:c.5283A>G | NP_001193775.1:p.Leu1761= |