Linked Data
dbSNP Id:
rs2092344521
gnomAD v4:
16-2106594-C-T
MyVariant Identifiers:
chr16:g.2156595C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106594C>T , CM000678.2:g.2106594C>T | GRCh38 |
| NC_000016.9:g.2156595C>T , CM000678.1:g.2156595C>T | GRCh37 |
| NC_000016.8:g.2096596C>T | NCBI36 |
| NG_008617.1:g.34305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7293G>A MANE Select | ENSP00000262304.4:p.Leu2431= | |
| ENST00000262304.8:c.7293G>A | ENSP00000262304.4:p.Leu2431= | |
| ENST00000415938.7:n.538G>A | ||
| ENST00000423118.5:c.7293G>A | ENSP00000399501.1:p.Leu2431= | |
| ENST00000483024.1:c.461G>A | ||
| ENST00000483558.5:n.352G>A | ||
| ENST00000483731.5:n.1018G>A | ||
| ENST00000486339.6:n.1039G>A | ||
| ENST00000487932.5:c.1980G>A | ENSP00000457132.1:p.Leu660= | |
| ENST00000496574.6:n.1296G>A | ||
| ENST00000565639.6:n.1001G>A | ||
| ENST00000568591.5:c.2454G>A | ENSP00000457162.1:n.2454G>A | |
| ENST00000569983.5:n.649G>A | ||
| NM_000296.3:c.7293G>A | NP_000287.3:p.Leu2431= | |
| NM_001009944.2:c.7293G>A | NP_001009944.2:p.Leu2431= | |
| XM_005255370.2:c.4248G>A | XP_005255427.1:p.Leu1416= | |
| XM_011522525.1:c.7371G>A | XP_011520827.1:p.Leu2457= | |
| XM_011522526.1:c.7371G>A | XP_011520828.1:p.Leu2457= | |
| XM_011522527.1:c.7371G>A | XP_011520829.1:p.Leu2457= | |
| XM_011522528.1:c.7347G>A | XP_011520830.1:p.Leu2449= | |
| XM_011522529.1:c.7347G>A | XP_011520831.1:p.Leu2449= | |
| XM_011522530.1:c.7317G>A | XP_011520832.1:p.Leu2439= | |
| XM_011522531.1:c.7299G>A | XP_011520833.1:p.Leu2433= | |
| XM_011522532.1:c.7245G>A | XP_011520834.1:p.Leu2415= | |
| XM_011522533.1:c.7164G>A | XP_011520835.1:p.Leu2388= | |
| XM_011522534.1:c.7107G>A | XP_011520836.1:p.Leu2369= | |
| XM_011522535.1:c.5193G>A | XP_011520837.1:p.Leu1731= | |
| XM_011522536.1:c.7371G>A | XP_011520838.1:p.Leu2457= | |
| XM_011522537.1:c.4371G>A | XP_011520839.1:p.Leu1457= | |
| XR_932867.1:n.7386G>A | ||
| XR_932868.1:n.7386G>A | ||
| XR_932869.1:n.7386G>A | ||
| XR_932870.1:n.7386G>A | ||
| XM_005255370.3:c.4248G>A | XP_005255427.1:p.Leu1416= | |
| XM_011522528.3:c.7347G>A | XP_011520830.1:p.Leu2449= | |
| XM_011522529.2:c.7347G>A | XP_011520831.1:p.Leu2449= | |
| XM_011522537.2:c.4371G>A | XP_011520839.1:p.Leu1457= | |
| XM_024450298.1:c.7413G>A | XP_024306066.1:p.Leu2471= | |
| XM_024450299.1:c.7341G>A | XP_024306067.1:p.Leu2447= | |
| XM_024450300.1:c.7203G>A | XP_024306068.1:p.Leu2401= | |
| XM_024450301.1:c.5289G>A | XP_024306069.1:p.Leu1763= | |
| NM_000296.4:c.7293G>A | NP_000287.4:p.Leu2431= | |
| NM_001009944.3:c.7293G>A MANE Select | NP_001009944.3:p.Leu2431= |