Linked Data
ClinVar Variation Id:
374692
ClinVar RCV Id:
RCV000415891
RCV001270085
RCV001563885
RCV001242512
RCV001828390
RCV001563884
RCV002521478
dbSNP Id:
rs140648074
ExAC:
1:197398648 C / T
gnomAD v2:
1-197398648-C-T
gnomAD v3:
1-197429518-C-T
gnomAD v4:
1-197429518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197429518C>T , CM000663.2:g.197429518C>T | GRCh38 |
| NC_000001.10:g.197398648C>T , CM000663.1:g.197398648C>T | GRCh37 |
| NC_000001.9:g.195665271C>T | NCBI36 |
| NG_008483.1:g.166241C>T | |
| NG_008483.2:g.233057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2746C>T MANE Select | ENSP00000356370.3:p.Leu916Phe | |
| ENST00000638467.1:c.2746C>T | ENSP00000491102.1:p.Leu916Phe | |
| ENST00000681519.1:c.1627C>T | ENSP00000505267.1:p.Leu543Phe | |
| ENST00000367397.1:c.889C>T | ENSP00000356367.1:p.Leu297Phe | |
| ENST00000367399.6:c.2410C>T | ENSP00000356369.2:p.Leu804Phe | |
| ENST00000367400.7:c.2746C>T | ENSP00000356370.3:p.Leu916Phe | |
| ENST00000484075.5:c.2746C>T | ENSP00000433932.1:p.Leu916Phe | |
| ENST00000535699.5:c.2674C>T | ENSP00000438786.1:p.Leu892Phe | |
| ENST00000538660.5:c.2129-6082C>T | ENSP00000438091.1:n.2129-6082C>T | |
| NM_001193640.1:c.2410C>T | NP_001180569.1:p.Leu804Phe | |
| NM_001257965.1:c.2674C>T | NP_001244894.1:p.Leu892Phe | |
| NM_001257966.1:c.2129-6082C>T | NP_001244895.1:n.2129-6082C>T | |
| NM_201253.2:c.2746C>T | NP_957705.1:p.Leu916Phe | |
| NR_047563.1:n.2747C>T | ||
| NR_047564.1:n.2955C>T | ||
| XM_011509365.1:c.2746C>T | XP_011507667.1:p.Leu916Phe | |
| XM_011509366.1:c.2746C>T | XP_011507668.1:p.Leu916Phe | |
| XM_011509367.1:c.2746C>T | XP_011507669.1:p.Leu916Phe | |
| XM_011509368.1:c.2164C>T | XP_011507670.1:p.Leu722Phe | |
| XM_011509369.1:c.1189C>T | XP_011507671.1:p.Leu397Phe | |
| XM_011509365.2:c.2746C>T | XP_011507667.1:p.Leu916Phe | |
| XM_011509369.2:c.1189C>T | XP_011507671.1:p.Leu397Phe | |
| XM_017000851.1:c.1903C>T | XP_016856340.1:p.Leu635Phe | |
| XM_017000852.1:c.2881C>T | XP_016856341.1:p.Leu961Phe | |
| NM_201253.3:c.2746C>T MANE Select | NP_957705.1:p.Leu916Phe | |
| NM_001193640.2:c.2410C>T | NP_001180569.1:p.Leu804Phe | |
| NM_001257965.2:c.2674C>T | NP_001244894.1:p.Leu892Phe | |
| NR_047563.2:n.2699C>T | ||
| NR_047564.2:n.2907C>T | ||
| NM_001257966.2:c.2129-6082C>T | NP_001244895.1:n.2129-6082C>T |