Linked Data
ClinVar Variation Id:
2811992
ClinVar RCV Id:
RCV003620723
dbSNP Id:
rs1436197481
gnomAD v2:
22-19754138-C-T
gnomAD v3:
22-19766615-C-T
gnomAD v4:
22-19766615-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19766615C>T , CM000684.2:g.19766615C>T | GRCh38 |
| NC_000022.10:g.19754138C>T , CM000684.1:g.19754138C>T | GRCh37 |
| NC_000022.9:g.18134138C>T | NCBI36 |
| NG_009229.1:g.14913C>T , LRG_226:g.14913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649276.2:c.1263C>T MANE Select | ENSP00000497003.1:p.His421= | |
| ENST00000329705.11:c.1009+613C>T | ENSP00000331176.7:n.1009+613C>T | |
| ENST00000332710.8:c.1236C>T | ENSP00000331791.4:p.His412= | |
| ENST00000359500.7:c.1009+613C>T | ENSP00000352483.3:n.1009+613C>T | |
| ENST00000621939.1:c.1009+613C>T | ENSP00000477982.1:n.1009+613C>T | |
| NM_005992.1:c.1009+613C>T | NP_005983.1:n.1009+613C>T | |
| NM_080646.1:c.1009+613C>T | NP_542377.1:n.1009+613C>T | |
| NM_080647.1:c.1236C>T , LRG_226t1:c.1236C>T | NP_542378.1:p.His412= | |
| XM_006724312.1:c.1236C>T | XP_006724375.1:p.His412= | |
| XM_011530351.1:c.1263C>T | XP_011528653.1:p.His421= | |
| XM_006724312.2:c.1236C>T | XP_006724375.1:p.His412= | |
| XM_017028925.1:c.1386C>T | XP_016884414.1:p.His462= | |
| XM_017028926.1:c.1236C>T | XP_016884415.1:p.His412= | |
| XM_017028927.1:c.591C>T | XP_016884416.1:p.His197= | |
| XM_017028928.1:c.1159+613C>T | XP_016884417.1:n.1159+613C>T | |
| NM_001379200.1:c.1263C>T MANE Select | NP_001366129.1:p.His421= | |
| NM_080646.2:c.1009+613C>T | NP_542377.1:n.1009+613C>T |