Linked Data
dbSNP Id:
rs771967977
ExAC:
16:2140371 G / A
gnomAD v2:
16-2140371-G-A
gnomAD v3:
16-2090370-G-A
gnomAD v4:
16-2090370-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2090370G>A , CM000678.2:g.2090370G>A | GRCh38 |
| NC_000016.9:g.2140371G>A , CM000678.1:g.2140371G>A | GRCh37 |
| NC_000016.8:g.2080372G>A | NCBI36 |
| NG_005895.1:g.46065G>A , LRG_487:g.46065G>A | |
| NG_008617.1:g.52851C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.12359C>T MANE Select | ENSP00000262304.4:p.Pro4120Leu | |
| ENST00000262304.8:c.12359C>T | ENSP00000262304.4:p.Pro4120Leu | |
| ENST00000423118.5:c.12356C>T | ENSP00000399501.1:p.Pro4119Leu | |
| ENST00000472577.1:n.387C>T | ||
| NM_000296.3:c.12356C>T | NP_000287.3:p.Pro4119Leu | |
| NM_001009944.2:c.12359C>T | NP_001009944.2:p.Pro4120Leu | |
| XM_005255370.2:c.9314C>T | XP_005255427.1:p.Pro3105Leu | |
| XM_011522525.1:c.12437C>T | XP_011520827.1:p.Pro4146Leu | |
| XM_011522526.1:c.12434C>T | XP_011520828.1:p.Pro4145Leu | |
| XM_011522527.1:c.12419C>T | XP_011520829.1:p.Pro4140Leu | |
| XM_011522528.1:c.12413C>T | XP_011520830.1:p.Pro4138Leu | |
| XM_011522529.1:c.12410C>T | XP_011520831.1:p.Pro4137Leu | |
| XM_011522530.1:c.12383C>T | XP_011520832.1:p.Pro4128Leu | |
| XM_011522531.1:c.12365C>T | XP_011520833.1:p.Pro4122Leu | |
| XM_011522532.1:c.12311C>T | XP_011520834.1:p.Pro4104Leu | |
| XM_011522533.1:c.12230C>T | XP_011520835.1:p.Pro4077Leu | |
| XM_011522534.1:c.12173C>T | XP_011520836.1:p.Pro4058Leu | |
| XM_011522535.1:c.10259C>T | XP_011520837.1:p.Pro3420Leu | |
| XM_011522537.1:c.9437C>T | XP_011520839.1:p.Pro3146Leu | |
| XR_932867.1:n.12277C>T | ||
| XM_005255370.3:c.9314C>T | XP_005255427.1:p.Pro3105Leu | |
| XM_011522528.3:c.12413C>T | XP_011520830.1:p.Pro4138Leu | |
| XM_011522529.2:c.12410C>T | XP_011520831.1:p.Pro4137Leu | |
| XM_011522537.2:c.9437C>T | XP_011520839.1:p.Pro3146Leu | |
| XM_024450298.1:c.12479C>T | XP_024306066.1:p.Pro4160Leu | |
| XM_024450299.1:c.12407C>T | XP_024306067.1:p.Pro4136Leu | |
| XM_024450300.1:c.12269C>T | XP_024306068.1:p.Pro4090Leu | |
| XM_024450301.1:c.10355C>T | XP_024306069.1:p.Pro3452Leu | |
| NM_000296.4:c.12356C>T | NP_000287.4:p.Pro4119Leu | |
| NM_001009944.3:c.12359C>T MANE Select | NP_001009944.3:p.Pro4120Leu |