Linked Data
ClinVar Variation Id:
420118
ClinVar RCV Id:
RCV000481692
dbSNP Id:
rs1064794297
gnomAD v4:
21-44886837-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44886837C>G , CM000683.2:g.44886837C>G | GRCh38 |
| NC_000021.8:g.46306752C>G , CM000683.1:g.46306752C>G | GRCh37 |
| NC_000021.7:g.45131180C>G | NCBI36 |
| NG_007270.2:g.47002G>C , LRG_76:g.47002G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696946.1:n.1353G>C | ||
| ENST00000302347.10:c.2218G>C | ENSP00000303242.6:p.Gly740Arg | |
| ENST00000652462.1:c.2146G>C MANE Select | ENSP00000498780.1:p.Gly716Arg | |
| ENST00000302347.9:c.2146G>C | ENSP00000303242.5:p.Gly716Arg | |
| ENST00000355153.8:c.2146G>C | ENSP00000347279.4:p.Gly716Arg | |
| ENST00000397850.6:c.2146G>C | ENSP00000380948.2:p.Gly716Arg | |
| ENST00000397852.5:c.2146G>C | ENSP00000380950.1:p.Gly716Arg | |
| ENST00000397854.7:c.1975G>C | ENSP00000380952.3:p.Gly659Arg | |
| ENST00000397857.5:c.2146G>C | ENSP00000380955.1:p.Gly716Arg | |
| ENST00000475170.5:n.1546G>C | ||
| ENST00000479202.5:n.505G>C | ||
| ENST00000498666.5:n.4202G>C | ||
| ENST00000523323.5:c.*1973G>C | ENSP00000427732.1:n.*1973G>C | |
| ENST00000610622.4:c.*837G>C | ENSP00000480700.1:n.*837G>C | |
| NM_000211.4:c.2146G>C | NP_000202.3:p.Gly716Arg | |
| NM_001127491.2:c.2146G>C | NP_001120963.2:p.Gly716Arg | |
| NM_001303238.1:c.1939G>C | NP_001290167.1:p.Gly647Arg | |
| XM_006724001.1:c.1939G>C | XP_006724064.1:p.Gly647Arg | |
| XM_006724001.2:c.1939G>C | XP_006724064.1:p.Gly647Arg | |
| NM_000211.5:c.2146G>C MANE Select | NP_000202.3:p.Gly716Arg | |
| NM_001127491.3:c.2146G>C | NP_001120963.2:p.Gly716Arg | |
| NM_001303238.2:c.1939G>C | NP_001290167.1:p.Gly647Arg |