Linked Data
dbSNP Id:
rs1238035995
gnomAD v2:
2-74372417-T-C
gnomAD v3:
2-74145290-T-C
gnomAD v4:
2-74145290-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74145290T>C , CM000664.2:g.74145290T>C | GRCh38 |
| NC_000002.11:g.74372417T>C , CM000664.1:g.74372417T>C | GRCh37 |
| NC_000002.10:g.74225925T>C | NCBI36 |
| NG_031910.1:g.7623A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327428.10:c.68A>G MANE Select | ENSP00000331369.5:p.His23Arg | |
| ENST00000295326.4:c.68A>G | ENSP00000295326.4:p.His23Arg | |
| ENST00000327428.9:c.68A>G | ENSP00000331369.5:p.His23Arg | |
| ENST00000469676.1:n.1091A>G | ||
| ENST00000477685.5:n.219A>G | ||
| ENST00000484655.1:n.2623A>G | ||
| NM_001035505.1:c.68A>G | NP_001030582.1:p.His23Arg | |
| NM_212552.2:c.68A>G | NP_997717.2:p.His23Arg | |
| NM_212552.3:c.68A>G MANE Select | NP_997717.2:p.His23Arg | |
| NM_001035505.2:c.68A>G | NP_001030582.1:p.His23Arg |