Linked Data
ClinVar Variation Id:
799978
ClinVar RCV Id:
RCV000983605
dbSNP Id:
rs1584965524
MyVariant Identifiers:
chr7:g.116423415T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116783361T>C , CM000669.2:g.116783361T>C | GRCh38 |
| NC_000007.13:g.116423415T>C , CM000669.1:g.116423415T>C | GRCh37 |
| NC_000007.12:g.116210651T>C | NCBI36 |
| NG_008996.1:g.115957T>C , LRG_662:g.115957T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436117.3:c.*1295T>C | ENSP00000410980.2:n.*1295T>C | |
| ENST00000318493.11:c.3744T>C | ENSP00000317272.6:p.Tyr1248= | |
| ENST00000397752.8:c.3690T>C MANE Select | ENSP00000380860.3:p.Tyr1230= | |
| ENST00000318493.10:c.3744T>C | ENSP00000317272.6:p.Tyr1248= | |
| ENST00000397752.7:c.3690T>C | ENSP00000380860.3:p.Tyr1230= | |
| NM_000245.2:c.3690T>C | NP_000236.2:p.Tyr1230= | |
| NM_001127500.1:c.3744T>C , LRG_662t1:c.3744T>C | NP_001120972.1:p.Tyr1248= | |
| XM_006715990.2:c.2400T>C | XP_006716053.1:p.Tyr800= | |
| XM_006715991.2:c.2400T>C | XP_006716054.1:p.Tyr800= | |
| XM_011516223.1:c.3747T>C | XP_011514525.1:p.Tyr1249= | |
| NM_000245.3:c.3690T>C | NP_000236.2:p.Tyr1230= | |
| NM_001127500.2:c.3744T>C | NP_001120972.1:p.Tyr1248= | |
| NM_001324402.1:c.2400T>C | NP_001311331.1:p.Tyr800= | |
| XR_001744772.1:n.3821T>C | ||
| NM_001127500.3:c.3744T>C | NP_001120972.1:p.Tyr1248= | |
| NM_000245.4:c.3690T>C MANE Select | NP_000236.2:p.Tyr1230= | |
| NM_001324402.2:c.2400T>C | NP_001311331.1:p.Tyr800= |