Linked Data
dbSNP Id:
rs1240703640
gnomAD v2:
17-61564362-T-C
gnomAD v3:
17-63487001-T-C
gnomAD v4:
17-63487001-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63487001T>C , CM000679.2:g.63487001T>C | GRCh38 |
| NC_000017.10:g.61564362T>C , CM000679.1:g.61564362T>C | GRCh37 |
| NC_000017.9:g.58918094T>C | NCBI36 |
| NG_011648.1:g.14929T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2233T>C MANE Select | ENSP00000290866.4:p.Leu745= | |
| ENST00000290863.10:c.511T>C | ENSP00000290863.6:p.Leu171= | |
| ENST00000290866.9:c.2233T>C | ENSP00000290866.4:p.Leu745= | |
| ENST00000413513.7:c.511T>C | ENSP00000392247.3:p.Leu171= | |
| ENST00000428043.5:c.2233T>C | ENSP00000397593.2:p.Leu745= | |
| ENST00000577647.2:c.511T>C | ENSP00000464149.1:p.Leu171= | |
| ENST00000578839.5:c.*303T>C | ENSP00000462110.2:n.*303T>C | |
| ENST00000579204.1:c.414T>C | ENSP00000464629.1:n.414T>C | |
| ENST00000579314.5:c.511T>C | ENSP00000462599.1:p.Leu171= | |
| ENST00000579726.5:c.795T>C | ||
| ENST00000582005.5:c.*153T>C | ENSP00000462002.1:n.*153T>C | |
| ENST00000582761.1:c.1T>C | ENSP00000462909.1:p.Leu1= | |
| ENST00000584865.5:n.179T>C | ||
| NM_000789.3:c.2233T>C | NP_000780.1:p.Leu745= | |
| NM_001178057.1:c.511T>C | NP_001171528.1:p.Leu171= | |
| NM_152830.2:c.511T>C | NP_690043.1:p.Leu171= | |
| XM_005257110.1:c.1684T>C | XP_005257167.1:p.Leu562= | |
| XM_006721737.2:c.571T>C | XP_006721800.2:p.Leu191= | |
| XM_006721737.3:c.571T>C | XP_006721800.2:p.Leu191= | |
| NM_000789.4:c.2233T>C MANE Select | NP_000780.1:p.Leu745= | |
| NM_001178057.2:c.511T>C | NP_001171528.1:p.Leu171= | |
| NM_152830.3:c.511T>C | NP_690043.1:p.Leu171= | |
| NM_001382700.1:c.1666T>C | NP_001369629.1:p.Leu556= | |
| NM_001382701.1:c.1381T>C | NP_001369630.1:p.Leu461= | |
| NM_001382702.1:c.163T>C | NP_001369631.1:p.Leu55= | |
| NR_168483.1:n.533T>C |