Linked Data
ClinVar Variation Id:
2888966
ClinVar RCV Id:
RCV003763694
dbSNP Id:
rs1795208410
gnomAD v4:
7-116783358-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116783358G>A , CM000669.2:g.116783358G>A | GRCh38 |
| NC_000007.13:g.116423412G>A , CM000669.1:g.116423412G>A | GRCh37 |
| NC_000007.12:g.116210648G>A | NCBI36 |
| NG_008996.1:g.115954G>A , LRG_662:g.115954G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436117.3:c.*1292G>A | ENSP00000410980.2:n.*1292G>A | |
| ENST00000318493.11:c.3741G>A | ENSP00000317272.6:p.Met1247Ile | |
| ENST00000397752.8:c.3687G>A MANE Select | ENSP00000380860.3:p.Met1229Ile | |
| ENST00000318493.10:c.3741G>A | ENSP00000317272.6:p.Met1247Ile | |
| ENST00000397752.7:c.3687G>A | ENSP00000380860.3:p.Met1229Ile | |
| NM_000245.2:c.3687G>A | NP_000236.2:p.Met1229Ile | |
| NM_001127500.1:c.3741G>A , LRG_662t1:c.3741G>A | NP_001120972.1:p.Met1247Ile | |
| XM_006715990.2:c.2397G>A | XP_006716053.1:p.Met799Ile | |
| XM_006715991.2:c.2397G>A | XP_006716054.1:p.Met799Ile | |
| XM_011516223.1:c.3744G>A | XP_011514525.1:p.Met1248Ile | |
| NM_000245.3:c.3687G>A | NP_000236.2:p.Met1229Ile | |
| NM_001127500.2:c.3741G>A | NP_001120972.1:p.Met1247Ile | |
| NM_001324402.1:c.2397G>A | NP_001311331.1:p.Met799Ile | |
| XR_001744772.1:n.3818G>A | ||
| NM_001127500.3:c.3741G>A | NP_001120972.1:p.Met1247Ile | |
| NM_000245.4:c.3687G>A MANE Select | NP_000236.2:p.Met1229Ile | |
| NM_001324402.2:c.2397G>A | NP_001311331.1:p.Met799Ile |