MyVariant.info:
GRCh38
chr21:g.44235470G>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44235470G>A , CM000683.2:g.44235470G>A | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344330.9:c.499C>T | ENSP00000339477.4:p.Pro167Ser | |
| ENST00000400377.4:c.148C>T | ENSP00000383228.3:p.Pro50Ser | |
| ENST00000400379.8:c.499C>T | ENSP00000383230.3:p.Pro167Ser | |
| ENST00000407780.8:c.499C>T MANE Select | ENSP00000384432.3:p.Pro167Ser | |
| ENST00000643466.2:c.499C>T | ENSP00000494882.2:p.Pro167Ser | |
| ENST00000700350.1:c.*635C>T | ENSP00000514955.1:n.*635C>T | |
| ENST00000700351.1:n.608C>T | ||
| ENST00000700352.1:c.376C>T | ENSP00000514956.1:p.Pro126Ser | |
| ENST00000700353.1:n.1632C>T | ||
| ENST00000700354.1:n.3434C>T | ||
| ENST00000700355.1:c.499C>T | ENSP00000514957.1:p.Pro167Ser | |
| ENST00000700356.1:c.*727C>T | ENSP00000514958.1:n.*727C>T | |
| ENST00000700357.1:c.*491C>T | ENSP00000514959.1:n.*491C>T | |
| ENST00000700358.1:c.244C>T | ENSP00000514960.1:p.Pro82Ser | |
| ENST00000700359.1:c.*113C>T | ENSP00000514961.1:n.*113C>T | |
| ENST00000700360.1:c.244C>T | ENSP00000514962.1:p.Pro82Ser | |
| ENST00000700361.1:c.499C>T | ENSP00000514963.1:p.Pro167Ser | |
| ENST00000344330.8:c.499C>T | ENSP00000339477.4:p.Pro167Ser | |
| ENST00000400377.3:c.148C>T | ENSP00000383228.3:p.Pro50Ser | |
| ENST00000400379.7:c.499C>T | ENSP00000383230.3:p.Pro167Ser | |
| ENST00000407780.7:c.499C>T | ENSP00000384432.3:p.Pro167Ser | |
| NM_001283050.1:c.499C>T | NP_001269979.1:p.Pro167Ser | |
| NM_001283051.1:c.148C>T | NP_001269980.1:p.Pro50Ser | |
| NM_001283052.1:c.244C>T | NP_001269981.1:p.Pro82Ser | |
| NM_015259.5:c.499C>T | NP_056074.1:p.Pro167Ser | |
| XM_011529514.1:c.499C>T | XP_011527816.1:p.Pro167Ser | |
| XM_011529515.1:c.499C>T | XP_011527817.1:p.Pro167Ser | |
| XM_011529516.1:c.418C>T | XP_011527818.1:p.Pro140Ser | |
| NM_001365759.1:c.418C>T | NP_001352688.1:p.Pro140Ser | |
| XM_011529514.3:c.499C>T | XP_011527816.1:p.Pro167Ser | |
| XM_011529515.3:c.499C>T | XP_011527817.1:p.Pro167Ser | |
| XM_011529516.3:c.418C>T | XP_011527818.1:p.Pro140Ser | |
| XM_024452060.1:c.499C>T | XP_024307828.1:p.Pro167Ser | |
| NM_001283050.2:c.499C>T | NP_001269979.1:p.Pro167Ser | |
| NM_001283051.2:c.148C>T | NP_001269980.1:p.Pro50Ser | |
| NM_001283052.2:c.244C>T | NP_001269981.1:p.Pro82Ser | |
| NM_001365759.2:c.418C>T | NP_001352688.1:p.Pro140Ser | |
| NM_015259.6:c.499C>T MANE Select | NP_056074.1:p.Pro167Ser | |
| NM_001395918.1:c.499C>T | NP_001382847.1:p.Pro167Ser |