Linked Data
dbSNP Id:
rs777166834
ExAC:
7:23205401 T / C
gnomAD v2:
7-23205401-T-C
gnomAD v3:
7-23165782-T-C
gnomAD v4:
7-23165782-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23165782T>C , CM000669.2:g.23165782T>C | GRCh38 |
| NC_000007.13:g.23205401T>C , CM000669.1:g.23205401T>C | GRCh37 |
| NC_000007.12:g.23171926T>C | NCBI36 |
| NG_016983.1:g.65049T>C | |
| NG_016983.2:g.65049T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339077.10:c.1021T>C MANE Select | ENSP00000343273.4:p.Leu341= | |
| ENST00000339077.9:c.1021T>C | ENSP00000343273.4:p.Leu341= | |
| ENST00000409689.5:c.877T>C | ENSP00000386263.1:p.Leu293= | |
| ENST00000521082.5:c.*1029T>C | ENSP00000430351.1:n.*1029T>C | |
| NM_001031710.2:c.1021T>C | NP_001026880.2:p.Leu341= | |
| NM_018846.4:c.877T>C | NP_061334.4:p.Leu293= | |
| NR_033328.1:n.1445T>C | ||
| XM_006715753.1:c.1060T>C | XP_006715816.1:p.Leu354= | |
| XM_006715754.1:c.994T>C | XP_006715817.1:p.Leu332= | |
| XM_006715755.1:c.994T>C | XP_006715818.1:p.Leu332= | |
| XM_006715756.1:c.916T>C | XP_006715819.1:p.Leu306= | |
| XM_006715753.3:c.1060T>C | XP_006715816.1:p.Leu354= | |
| XM_006715754.3:c.994T>C | XP_006715817.1:p.Leu332= | |
| XM_006715755.3:c.994T>C | XP_006715818.1:p.Leu332= | |
| XM_006715756.3:c.916T>C | XP_006715819.1:p.Leu306= | |
| XM_017012439.2:c.955T>C | XP_016867928.1:p.Leu319= | |
| NM_001031710.3:c.1021T>C MANE Select | NP_001026880.2:p.Leu341= | |
| NM_018846.5:c.877T>C | NP_061334.4:p.Leu293= | |
| NR_033328.2:n.1394T>C |