Linked Data
dbSNP Id:
rs864309485
gnomAD v4:
8-30846888-A-G
MyVariant Identifiers:
chr8:g.30704404A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.30846888A>G , CM000670.2:g.30846888A>G | GRCh38 |
| NC_000008.10:g.30704404A>G , CM000670.1:g.30704404A>G | GRCh37 |
| NC_000008.9:g.30823946A>G | NCBI36 |
| NG_053141.1:g.71125T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256246.5:c.2130T>C | ENSP00000256246.2:p.Tyr710= | |
| ENST00000638951.1:c.3291T>C | ENSP00000492713.1:p.Tyr1097= | |
| ENST00000643185.2:c.3279T>C MANE Select | ENSP00000493555.1:p.Tyr1093= | |
| ENST00000256246.4:c.2130T>C | ENSP00000256246.2:p.Tyr710= | |
| NM_031271.3:c.2130T>C | NP_112561.2:p.Tyr710= | |
| XM_005273575.2:c.3279T>C | XP_005273632.1:p.Tyr1093= | |
| XM_005273576.2:c.2970T>C | XP_005273633.1:p.Tyr990= | |
| XM_006716369.2:c.3279T>C | XP_006716432.1:p.Tyr1093= | |
| XM_011544588.1:c.3291T>C | XP_011542890.1:p.Tyr1097= | |
| XM_011544589.1:c.3279T>C | XP_011542891.1:p.Tyr1093= | |
| XM_011544590.1:c.3279T>C | XP_011542892.1:p.Tyr1093= | |
| XM_011544591.1:c.3279T>C | XP_011542893.1:p.Tyr1093= | |
| XM_011544592.1:c.3279T>C | XP_011542894.1:p.Tyr1093= | |
| XM_011544593.1:c.2970T>C | XP_011542895.1:p.Tyr990= | |
| XM_011544594.1:c.3291T>C | XP_011542896.1:p.Tyr1097= | |
| NM_001350162.1:c.3279T>C | NP_001337091.1:p.Tyr1093= | |
| XM_006716369.4:c.3279T>C | XP_006716432.1:p.Tyr1093= | |
| XM_011544588.2:c.3291T>C | XP_011542890.1:p.Tyr1097= | |
| XM_011544589.3:c.3279T>C | XP_011542891.1:p.Tyr1093= | |
| XM_011544590.3:c.3279T>C | XP_011542892.1:p.Tyr1093= | |
| XM_011544591.3:c.3279T>C | XP_011542893.1:p.Tyr1093= | |
| XM_011544592.3:c.3279T>C | XP_011542894.1:p.Tyr1093= | |
| XM_011544593.3:c.2970T>C | XP_011542895.1:p.Tyr990= | |
| XM_011544594.2:c.3291T>C | XP_011542896.1:p.Tyr1097= | |
| XM_024447196.1:c.3279T>C | XP_024302964.1:p.Tyr1093= | |
| XM_024447197.1:c.2970T>C | XP_024302965.1:p.Tyr990= | |
| NM_001350162.2:c.3279T>C MANE Select | NP_001337091.1:p.Tyr1093= |