Linked Data
ClinVar Variation Id:
1577820
ClinVar RCV Id:
RCV002081158
dbSNP Id:
rs925435577
gnomAD v2:
8-48701527-A-G
gnomAD v4:
8-47788966-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47788966A>G , CM000670.2:g.47788966A>G | GRCh38 |
| NC_000008.10:g.48701527A>G , CM000670.1:g.48701527A>G | GRCh37 |
| NC_000008.9:g.48864080A>G | NCBI36 |
| NG_023435.1:g.176218T>C , LRG_162:g.176218T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697602.1:n.1415T>C | ||
| ENST00000697603.1:c.3519T>C | ENSP00000513358.1:p.Tyr1173= | |
| ENST00000314191.7:c.10842T>C MANE Select | ENSP00000313420.3:p.Tyr3614= | |
| ENST00000314191.6:c.10842T>C | ENSP00000313420.3:p.Tyr3614= | |
| ENST00000338368.7:c.10842T>C | ENSP00000345182.4:p.Tyr3614= | |
| NM_001081640.1:c.10842T>C | NP_001075109.1:p.Tyr3614= | |
| NM_006904.6:c.10842T>C , LRG_162t1:c.10842T>C | NP_008835.5:p.Tyr3614= | |
| XM_011517567.1:c.10845T>C | XP_011515869.1:p.Tyr3615= | |
| XM_011517568.1:c.10845T>C | XP_011515870.1:p.Tyr3615= | |
| NM_001081640.2:c.10842T>C | NP_001075109.1:p.Tyr3614= | |
| NM_006904.7:c.10842T>C MANE Select | NP_008835.5:p.Tyr3614= |