Linked Data
dbSNP Id:
rs769106171
ExAC:
16:2140392 A / G
gnomAD v2:
16-2140392-A-G
gnomAD v3:
16-2090391-A-G
gnomAD v4:
16-2090391-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2090391A>G , CM000678.2:g.2090391A>G | GRCh38 |
| NC_000016.9:g.2140392A>G , CM000678.1:g.2140392A>G | GRCh37 |
| NC_000016.8:g.2080393A>G | NCBI36 |
| NG_005895.1:g.46086A>G , LRG_487:g.46086A>G | |
| NG_008617.1:g.52830T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.12338T>C MANE Select | ENSP00000262304.4:p.Leu4113Ser | |
| ENST00000262304.8:c.12338T>C | ENSP00000262304.4:p.Leu4113Ser | |
| ENST00000423118.5:c.12335T>C | ENSP00000399501.1:p.Leu4112Ser | |
| ENST00000472577.1:n.366T>C | ||
| NM_000296.3:c.12335T>C | NP_000287.3:p.Leu4112Ser | |
| NM_001009944.2:c.12338T>C | NP_001009944.2:p.Leu4113Ser | |
| XM_005255370.2:c.9293T>C | XP_005255427.1:p.Leu3098Ser | |
| XM_011522525.1:c.12416T>C | XP_011520827.1:p.Leu4139Ser | |
| XM_011522526.1:c.12413T>C | XP_011520828.1:p.Leu4138Ser | |
| XM_011522527.1:c.12398T>C | XP_011520829.1:p.Leu4133Ser | |
| XM_011522528.1:c.12392T>C | XP_011520830.1:p.Leu4131Ser | |
| XM_011522529.1:c.12389T>C | XP_011520831.1:p.Leu4130Ser | |
| XM_011522530.1:c.12362T>C | XP_011520832.1:p.Leu4121Ser | |
| XM_011522531.1:c.12344T>C | XP_011520833.1:p.Leu4115Ser | |
| XM_011522532.1:c.12290T>C | XP_011520834.1:p.Leu4097Ser | |
| XM_011522533.1:c.12209T>C | XP_011520835.1:p.Leu4070Ser | |
| XM_011522534.1:c.12152T>C | XP_011520836.1:p.Leu4051Ser | |
| XM_011522535.1:c.10238T>C | XP_011520837.1:p.Leu3413Ser | |
| XM_011522537.1:c.9416T>C | XP_011520839.1:p.Leu3139Ser | |
| XR_932867.1:n.12256T>C | ||
| XM_005255370.3:c.9293T>C | XP_005255427.1:p.Leu3098Ser | |
| XM_011522528.3:c.12392T>C | XP_011520830.1:p.Leu4131Ser | |
| XM_011522529.2:c.12389T>C | XP_011520831.1:p.Leu4130Ser | |
| XM_011522537.2:c.9416T>C | XP_011520839.1:p.Leu3139Ser | |
| XM_024450298.1:c.12458T>C | XP_024306066.1:p.Leu4153Ser | |
| XM_024450299.1:c.12386T>C | XP_024306067.1:p.Leu4129Ser | |
| XM_024450300.1:c.12248T>C | XP_024306068.1:p.Leu4083Ser | |
| XM_024450301.1:c.10334T>C | XP_024306069.1:p.Leu3445Ser | |
| NM_000296.4:c.12335T>C | NP_000287.4:p.Leu4112Ser | |
| NM_001009944.3:c.12338T>C MANE Select | NP_001009944.3:p.Leu4113Ser |