Linked Data
dbSNP Id:
rs768391153
ExAC:
14:91739252 G / A
gnomAD v2:
14-91739252-G-A
gnomAD v3:
14-91272908-G-A
gnomAD v4:
14-91272908-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272908G>A , CM000676.2:g.91272908G>A | GRCh38 |
| NC_000014.8:g.91739252G>A , CM000676.1:g.91739252G>A | GRCh37 |
| NC_000014.7:g.90809005G>A | NCBI36 |
| NG_033118.1:g.149937C>T | |
| NG_033118.2:g.149937C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5804C>T MANE Select | ENSP00000374507.6:p.Pro1935Leu | |
| ENST00000331194.8:c.1238C>T | ENSP00000330332.8:p.Pro413Leu | |
| ENST00000389857.10:c.5804C>T | ENSP00000374507.6:p.Pro1935Leu | |
| ENST00000556726.5:c.2032C>T | ||
| NM_001080414.3:c.5804C>T | NP_001073883.2:p.Pro1935Leu | |
| XM_011536796.1:c.5696C>T | XP_011535098.1:p.Pro1899Leu | |
| XM_011536796.2:c.5696C>T | XP_011535098.1:p.Pro1899Leu | |
| XM_017021336.1:c.2885C>T | XP_016876825.1:p.Pro962Leu | |
| NM_001080414.4:c.5804C>T MANE Select | NP_001073883.2:p.Pro1935Leu |