Linked Data
dbSNP Id:
rs1427358329
gnomAD v2:
1-197446863-C-T
gnomAD v4:
1-197477733-C-T
COSMIC:
COSM3481112
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197477733C>T , CM000663.2:g.197477733C>T | GRCh38 |
| NC_000001.10:g.197446863C>T , CM000663.1:g.197446863C>T | GRCh37 |
| NC_000001.9:g.195713486C>T | NCBI36 |
| NG_008483.1:g.214456C>T | |
| NG_008483.2:g.281272C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.4075C>T MANE Select | ENSP00000356370.3:p.Leu1359Phe | |
| ENST00000367399.6:c.3739C>T | ENSP00000356369.2:p.Leu1247Phe | |
| ENST00000367400.7:c.4075C>T | ENSP00000356370.3:p.Leu1359Phe | |
| ENST00000448952.1:c.309C>T | ENSP00000395407.1:n.309C>T | |
| ENST00000484075.5:c.*186C>T | ENSP00000433932.1:n.*186C>T | |
| ENST00000535699.5:c.4003C>T | ENSP00000438786.1:p.Leu1335Phe | |
| ENST00000538660.5:c.2467C>T | ENSP00000438091.1:p.Leu823Phe | |
| NM_001193640.1:c.3739C>T | NP_001180569.1:p.Leu1247Phe | |
| NM_001257965.1:c.4003C>T | NP_001244894.1:p.Leu1335Phe | |
| NM_001257966.1:c.2467C>T | NP_001244895.1:p.Leu823Phe | |
| NM_201253.2:c.4075C>T | NP_957705.1:p.Leu1359Phe | |
| NR_047563.1:n.4076C>T | ||
| NR_047564.1:n.4526C>T | ||
| XM_011509366.1:c.*180C>T | XP_011507668.1:n.*180C>T | |
| XM_011509367.1:c.*54C>T | XP_011507669.1:n.*54C>T | |
| XM_011509368.1:c.3493C>T | XP_011507670.1:p.Leu1165Phe | |
| XM_011509369.1:c.2518C>T | XP_011507671.1:p.Leu840Phe | |
| XM_011509369.2:c.2518C>T | XP_011507671.1:p.Leu840Phe | |
| XM_017000851.1:c.3232C>T | XP_016856340.1:p.Leu1078Phe | |
| XM_017000852.1:c.4210C>T | XP_016856341.1:p.Leu1404Phe | |
| NM_201253.3:c.4075C>T MANE Select | NP_957705.1:p.Leu1359Phe | |
| NM_001193640.2:c.3739C>T | NP_001180569.1:p.Leu1247Phe | |
| NM_001257965.2:c.4003C>T | NP_001244894.1:p.Leu1335Phe | |
| NR_047563.2:n.4028C>T | ||
| NR_047564.2:n.4478C>T | ||
| NM_001257966.2:c.2467C>T | NP_001244895.1:p.Leu823Phe |