Linked Data
dbSNP Id:
rs1262562180
gnomAD v4:
17-63497234-C-G
MyVariant Identifiers:
chr17:g.61574595C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63497234C>G , CM000679.2:g.63497234C>G | GRCh38 |
| NC_000017.10:g.61574595C>G , CM000679.1:g.61574595C>G | GRCh37 |
| NC_000017.9:g.58928327C>G | NCBI36 |
| NG_011648.1:g.25162C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3789C>G MANE Select | ENSP00000290866.4:p.Leu1263= | |
| ENST00000290863.10:c.2067C>G | ENSP00000290863.6:p.Leu689= | |
| ENST00000290866.9:c.3789C>G | ENSP00000290866.4:p.Leu1263= | |
| ENST00000413513.7:c.1944C>G | ENSP00000392247.3:p.Leu648= | |
| ENST00000428043.5:c.*211C>G | ENSP00000397593.2:n.*211C>G | |
| ENST00000577647.2:c.1969+249C>G | ENSP00000464149.1:n.1969+249C>G | |
| ENST00000578839.5:c.*1544C>G | ENSP00000462110.2:n.*1544C>G | |
| ENST00000579314.5:c.*1518C>G | ENSP00000462599.1:n.*1518C>G | |
| NM_000789.3:c.3789C>G | NP_000780.1:p.Leu1263= | |
| NM_001178057.1:c.1944C>G | NP_001171528.1:p.Leu648= | |
| NM_152830.2:c.2067C>G | NP_690043.1:p.Leu689= | |
| XM_005257110.1:c.3240C>G | XP_005257167.1:p.Leu1080= | |
| XM_006721737.2:c.2127C>G | XP_006721800.2:p.Leu709= | |
| XM_006721737.3:c.2127C>G | XP_006721800.2:p.Leu709= | |
| NM_000789.4:c.3789C>G MANE Select | NP_000780.1:p.Leu1263= | |
| NM_001178057.2:c.1944C>G | NP_001171528.1:p.Leu648= | |
| NM_152830.3:c.2067C>G | NP_690043.1:p.Leu689= | |
| NM_001382700.1:c.3222C>G | NP_001369629.1:p.Leu1074= | |
| NM_001382701.1:c.2937C>G | NP_001369630.1:p.Leu979= | |
| NM_001382702.1:c.1404C>G | NP_001369631.1:p.Leu468= | |
| NR_168483.1:n.2167C>G |