Linked Data
dbSNP Id:
rs765982587
ExAC:
18:21508157 T / C
gnomAD v2:
18-21508157-T-C
gnomAD v4:
18-23928193-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23928193T>C , CM000680.2:g.23928193T>C | GRCh38 |
| NC_000018.9:g.21508157T>C , CM000680.1:g.21508157T>C | GRCh37 |
| NC_000018.8:g.19762155T>C | NCBI36 |
| NG_007853.2:g.243596T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.3421T>C MANE Plus Clinical | ENSP00000269217.5:p.Leu1141= | |
| ENST00000313654.14:c.8248T>C MANE Select | ENSP00000324532.8:p.Leu2750= | |
| ENST00000649721.1:c.4843T>C | ENSP00000497885.1:p.Leu1615= | |
| ENST00000269217.10:c.3421T>C | ENSP00000269217.5:p.Leu1141= | |
| ENST00000313654.13:c.8248T>C | ENSP00000324532.8:p.Leu2750= | |
| ENST00000399516.7:c.8080T>C | ENSP00000382432.2:p.Leu2694= | |
| ENST00000586751.5:c.3026T>C | ||
| ENST00000587184.5:c.3253T>C | ENSP00000466557.1:p.Leu1085= | |
| ENST00000588770.5:n.2826T>C | ||
| NM_000227.4:c.3421T>C | NP_000218.3:p.Leu1141= | |
| NM_001127717.2:c.8080T>C | NP_001121189.2:p.Leu2694= | |
| NM_001127718.2:c.3253T>C | NP_001121190.2:p.Leu1085= | |
| NM_198129.2:c.8248T>C | NP_937762.2:p.Leu2750= | |
| XM_011525978.1:c.8275T>C | XP_011524280.1:p.Leu2759= | |
| XM_011525979.1:c.8266T>C | XP_011524281.1:p.Leu2756= | |
| XM_011525980.1:c.8257T>C | XP_011524282.1:p.Leu2753= | |
| XM_011525981.1:c.8143T>C | XP_011524283.1:p.Leu2715= | |
| XM_011525982.1:c.7978T>C | XP_011524284.1:p.Leu2660= | |
| XM_011525978.2:c.8275T>C | XP_011524280.1:p.Leu2759= | |
| XM_011525979.2:c.8266T>C | XP_011524281.1:p.Leu2756= | |
| XM_011525980.2:c.8257T>C | XP_011524282.1:p.Leu2753= | |
| XM_011525981.2:c.8143T>C | XP_011524283.1:p.Leu2715= | |
| XM_011525982.2:c.7978T>C | XP_011524284.1:p.Leu2660= | |
| XM_017025743.1:c.6127T>C | XP_016881232.1:p.Leu2043= | |
| XM_017025744.1:c.3817T>C | XP_016881233.1:p.Leu1273= | |
| XR_001753199.1:n.8516T>C | ||
| NM_000227.5:c.3421T>C | NP_000218.3:p.Leu1141= | |
| NM_001127717.3:c.8080T>C | NP_001121189.2:p.Leu2694= | |
| NM_001127718.3:c.3253T>C | NP_001121190.2:p.Leu1085= | |
| NM_198129.3:c.8248T>C | NP_937762.2:p.Leu2750= | |
| NM_000227.6:c.3421T>C MANE Plus Clinical | NP_000218.3:p.Leu1141= | |
| NM_001127717.4:c.8080T>C | NP_001121189.2:p.Leu2694= | |
| NM_001127718.4:c.3253T>C | NP_001121190.2:p.Leu1085= | |
| NM_198129.4:c.8248T>C MANE Select | NP_937762.2:p.Leu2750= |