Linked Data
ClinVar Variation Id:
2707214
ClinVar RCV Id:
RCV003552369
dbSNP Id:
rs143344936
ExAC:
21:44270261 C / T
gnomAD v2:
21-44270261-C-T
gnomAD v3:
21-42850151-C-T
gnomAD v4:
21-42850151-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42850151C>T , CM000683.2:g.42850151C>T | GRCh38 |
| NC_000021.8:g.44270261C>T , CM000683.1:g.44270261C>T | GRCh37 |
| NC_000021.7:g.43143330C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398208.3:c.1137G>A MANE Select | ENSP00000381266.2:p.Leu379= | |
| ENST00000330317.6:c.1137G>A | ENSP00000328671.2:p.Leu379= | |
| ENST00000398208.2:c.1137G>A | ENSP00000381266.2:p.Leu379= | |
| ENST00000476326.5:n.1052G>A | ||
| ENST00000492742.5:n.1280G>A | ||
| NM_001260474.1:c.1134G>A | NP_001247403.1:p.Leu378= | |
| NM_001260475.1:c.699G>A | NP_001247404.1:p.Leu233= | |
| NM_001260476.1:c.699G>A | NP_001247405.1:p.Leu233= | |
| NM_001260477.1:c.699G>A | NP_001247406.1:p.Leu233= | |
| NM_018669.5:c.1137G>A | NP_061139.2:p.Leu379= | |
| NM_033661.4:c.1137G>A | NP_387510.1:p.Leu379= | |
| NR_048535.1:n.1117G>A | ||
| XM_011529433.1:c.1125G>A | XP_011527735.1:p.Leu375= | |
| XR_937429.1:n.1211G>A | ||
| XR_937430.1:n.1211G>A | ||
| XR_937431.1:n.1211G>A | ||
| XM_017028262.1:c.1032G>A | XP_016883751.1:p.Leu344= | |
| XM_017028263.1:c.867G>A | XP_016883752.1:p.Leu289= | |
| XM_017028264.1:c.867G>A | XP_016883753.1:p.Leu289= | |
| XM_024452047.1:c.699G>A | XP_024307815.1:p.Leu233= | |
| XM_024452048.1:c.699G>A | XP_024307816.1:p.Leu233= | |
| XM_024452049.1:c.699G>A | XP_024307817.1:p.Leu233= | |
| XM_024452050.1:c.699G>A | XP_024307818.1:p.Leu233= | |
| NM_018669.6:c.1137G>A MANE Select | NP_061139.2:p.Leu379= | |
| NM_001260474.2:c.1134G>A | NP_001247403.1:p.Leu378= | |
| NM_001260475.2:c.699G>A | NP_001247404.1:p.Leu233= | |
| NM_001260476.2:c.699G>A | NP_001247405.1:p.Leu233= | |
| NM_001260477.2:c.699G>A | NP_001247406.1:p.Leu233= | |
| NM_033661.5:c.1137G>A | NP_387510.1:p.Leu379= |