Linked Data
ClinVar Variation Id:
447965
dbSNP Id:
rs767385060
ExAC:
16:2139837 G / A
gnomAD v2:
16-2139837-G-A
gnomAD v3:
16-2089836-G-A
gnomAD v4:
16-2089836-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2089836G>A , CM000678.2:g.2089836G>A | GRCh38 |
| NC_000016.9:g.2139837G>A , CM000678.1:g.2139837G>A | GRCh37 |
| NC_000016.8:g.2079838G>A | NCBI36 |
| NG_005895.1:g.45531G>A , LRG_487:g.45531G>A | |
| NG_008617.1:g.53385C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.12803C>T MANE Select | ENSP00000262304.4:p.Pro4268Leu | |
| ENST00000262304.8:c.12803C>T | ENSP00000262304.4:p.Pro4268Leu | |
| ENST00000423118.5:c.12800C>T | ENSP00000399501.1:p.Pro4267Leu | |
| ENST00000472577.1:n.831C>T | ||
| NM_000296.3:c.12800C>T | NP_000287.3:p.Pro4267Leu | |
| NM_001009944.2:c.12803C>T | NP_001009944.2:p.Pro4268Leu | |
| XM_005255370.2:c.9758C>T | XP_005255427.1:p.Pro3253Leu | |
| XM_011522525.1:c.12881C>T | XP_011520827.1:p.Pro4294Leu | |
| XM_011522526.1:c.12878C>T | XP_011520828.1:p.Pro4293Leu | |
| XM_011522527.1:c.12863C>T | XP_011520829.1:p.Pro4288Leu | |
| XM_011522528.1:c.12857C>T | XP_011520830.1:p.Pro4286Leu | |
| XM_011522529.1:c.12854C>T | XP_011520831.1:p.Pro4285Leu | |
| XM_011522530.1:c.12827C>T | XP_011520832.1:p.Pro4276Leu | |
| XM_011522531.1:c.12809C>T | XP_011520833.1:p.Pro4270Leu | |
| XM_011522532.1:c.12755C>T | XP_011520834.1:p.Pro4252Leu | |
| XM_011522533.1:c.12674C>T | XP_011520835.1:p.Pro4225Leu | |
| XM_011522534.1:c.12617C>T | XP_011520836.1:p.Pro4206Leu | |
| XM_011522535.1:c.10703C>T | XP_011520837.1:p.Pro3568Leu | |
| XM_011522537.1:c.9881C>T | XP_011520839.1:p.Pro3294Leu | |
| XM_005255370.3:c.9758C>T | XP_005255427.1:p.Pro3253Leu | |
| XM_011522528.3:c.12857C>T | XP_011520830.1:p.Pro4286Leu | |
| XM_011522529.2:c.12854C>T | XP_011520831.1:p.Pro4285Leu | |
| XM_011522537.2:c.9881C>T | XP_011520839.1:p.Pro3294Leu | |
| XM_024450298.1:c.12923C>T | XP_024306066.1:p.Pro4308Leu | |
| XM_024450299.1:c.12851C>T | XP_024306067.1:p.Pro4284Leu | |
| XM_024450300.1:c.12713C>T | XP_024306068.1:p.Pro4238Leu | |
| XM_024450301.1:c.10799C>T | XP_024306069.1:p.Pro3600Leu | |
| NM_000296.4:c.12800C>T | NP_000287.4:p.Pro4267Leu | |
| NM_001009944.3:c.12803C>T MANE Select | NP_001009944.3:p.Pro4268Leu |