Linked Data
gnomAD v4:
4-99949703-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99949703T>C , CM000666.2:g.99949703T>C | GRCh38 |
| NC_000004.11:g.100870860T>C , CM000666.1:g.100870860T>C | GRCh37 |
| NC_000004.10:g.101089883T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296417.6:c.41A>G MANE Select | ENSP00000296417.5:p.Lys14Arg | |
| ENST00000651623.1:c.41A>G | ENSP00000498935.1:p.Lys14Arg | |
| ENST00000296417.5:c.41A>G | ENSP00000296417.5:p.Lys14Arg | |
| ENST00000511203.1:n.597A>G | ||
| ENST00000511319.5:n.566A>G | ||
| ENST00000511348.1:n.226A>G | ||
| ENST00000527366.1:n.125A>G | ||
| ENST00000529158.5:n.90A>G | ||
| NM_002106.3:c.41A>G | NP_002097.1:p.Lys14Arg | |
| NM_002106.4:c.41A>G MANE Select | NP_002097.1:p.Lys14Arg |