Linked Data
dbSNP Id:
rs1560420209
gnomAD v2:
4-6303330-T-G
gnomAD v3:
4-6301603-T-G
gnomAD v4:
4-6301603-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301603T>G , CM000666.2:g.6301603T>G | GRCh38 |
| NC_000004.11:g.6303330T>G , CM000666.1:g.6303330T>G | GRCh37 |
| NC_000004.10:g.6354231T>G | NCBI36 |
| NG_011700.1:g.36754T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1844T>G | ENSP00000507852.1:p.Val615Gly | |
| ENST00000683395.1:c.1785T>G | ||
| ENST00000684087.1:c.1808T>G | ENSP00000506978.1:p.Val603Gly | |
| ENST00000506362.2:c.1559T>G | ENSP00000424103.2:p.Val520Gly | |
| ENST00000673642.1:c.1467T>G | ENSP00000501242.1:n.1467T>G | |
| ENST00000673991.1:c.1844T>G | ENSP00000501033.1:p.Val615Gly | |
| ENST00000226760.5:c.1808T>G MANE Select | ENSP00000226760.1:p.Val603Gly | |
| ENST00000503569.5:c.1808T>G | ENSP00000423337.1:p.Val603Gly | |
| ENST00000507765.1:n.1993T>G | ||
| NM_001145853.1:c.1808T>G | NP_001139325.1:p.Val603Gly | |
| NM_006005.3:c.1808T>G MANE Select | NP_005996.2:p.Val603Gly | |
| XM_017008586.1:c.1817T>G | XP_016864075.1:p.Val606Gly |