Linked Data
dbSNP Id:
rs1483604976
gnomAD v2:
21-46306692-T-G
gnomAD v3:
21-44886777-T-G
gnomAD v4:
21-44886777-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44886777T>G , CM000683.2:g.44886777T>G | GRCh38 |
| NC_000021.8:g.46306692T>G , CM000683.1:g.46306692T>G | GRCh37 |
| NC_000021.7:g.45131120T>G | NCBI36 |
| NG_007270.2:g.47062A>C , LRG_76:g.47062A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696946.1:n.1413A>C | ||
| ENST00000302347.10:c.2278A>C | ENSP00000303242.6:p.Arg760= | |
| ENST00000652462.1:c.2206A>C MANE Select | ENSP00000498780.1:p.Arg736= | |
| ENST00000302347.9:c.2206A>C | ENSP00000303242.5:p.Arg736= | |
| ENST00000355153.8:c.2206A>C | ENSP00000347279.4:p.Arg736= | |
| ENST00000397850.6:c.2206A>C | ENSP00000380948.2:p.Arg736= | |
| ENST00000397852.5:c.2206A>C | ENSP00000380950.1:p.Arg736= | |
| ENST00000397854.7:c.2035A>C | ENSP00000380952.3:p.Arg679= | |
| ENST00000397857.5:c.2206A>C | ENSP00000380955.1:p.Arg736= | |
| ENST00000475170.5:n.1606A>C | ||
| ENST00000479202.5:n.565A>C | ||
| ENST00000498666.5:n.4262A>C | ||
| ENST00000523323.5:c.*2033A>C | ENSP00000427732.1:n.*2033A>C | |
| ENST00000610622.4:c.*897A>C | ENSP00000480700.1:n.*897A>C | |
| NM_000211.4:c.2206A>C | NP_000202.3:p.Arg736= | |
| NM_001127491.2:c.2206A>C | NP_001120963.2:p.Arg736= | |
| NM_001303238.1:c.1999A>C | NP_001290167.1:p.Arg667= | |
| XM_006724001.1:c.1999A>C | XP_006724064.1:p.Arg667= | |
| XM_006724001.2:c.1999A>C | XP_006724064.1:p.Arg667= | |
| NM_000211.5:c.2206A>C MANE Select | NP_000202.3:p.Arg736= | |
| NM_001127491.3:c.2206A>C | NP_001120963.2:p.Arg736= | |
| NM_001303238.2:c.1999A>C | NP_001290167.1:p.Arg667= |