Linked Data
ClinVar Variation Id:
1056298
ClinVar RCV Id:
RCV001365104
dbSNP Id:
rs1193542215
gnomAD v2:
7-116423411-T-C
gnomAD v3:
7-116783357-T-C
gnomAD v4:
7-116783357-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116783357T>C , CM000669.2:g.116783357T>C | GRCh38 |
| NC_000007.13:g.116423411T>C , CM000669.1:g.116423411T>C | GRCh37 |
| NC_000007.12:g.116210647T>C | NCBI36 |
| NG_008996.1:g.115953T>C , LRG_662:g.115953T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436117.3:c.*1291T>C | ENSP00000410980.2:n.*1291T>C | |
| ENST00000318493.11:c.3740T>C | ENSP00000317272.6:p.Met1247Thr | |
| ENST00000397752.8:c.3686T>C MANE Select | ENSP00000380860.3:p.Met1229Thr | |
| ENST00000318493.10:c.3740T>C | ENSP00000317272.6:p.Met1247Thr | |
| ENST00000397752.7:c.3686T>C | ENSP00000380860.3:p.Met1229Thr | |
| NM_000245.2:c.3686T>C | NP_000236.2:p.Met1229Thr | |
| NM_001127500.1:c.3740T>C , LRG_662t1:c.3740T>C | NP_001120972.1:p.Met1247Thr | |
| XM_006715990.2:c.2396T>C | XP_006716053.1:p.Met799Thr | |
| XM_006715991.2:c.2396T>C | XP_006716054.1:p.Met799Thr | |
| XM_011516223.1:c.3743T>C | XP_011514525.1:p.Met1248Thr | |
| NM_000245.3:c.3686T>C | NP_000236.2:p.Met1229Thr | |
| NM_001127500.2:c.3740T>C | NP_001120972.1:p.Met1247Thr | |
| NM_001324402.1:c.2396T>C | NP_001311331.1:p.Met799Thr | |
| XR_001744772.1:n.3817T>C | ||
| NM_001127500.3:c.3740T>C | NP_001120972.1:p.Met1247Thr | |
| NM_000245.4:c.3686T>C MANE Select | NP_000236.2:p.Met1229Thr | |
| NM_001324402.2:c.2396T>C | NP_001311331.1:p.Met799Thr |