Linked Data
dbSNP Id:
rs751034715
ExAC:
19:41518341 C / T
gnomAD v2:
19-41518341-C-T
gnomAD v4:
19-41012436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012436C>T , CM000681.2:g.41012436C>T | GRCh38 |
| NC_000019.9:g.41518341C>T , CM000681.1:g.41518341C>T | GRCh37 |
| NC_000019.8:g.46210181C>T | NCBI36 |
| NG_007929.1:g.26138C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1103C>T MANE Select | ENSP00000324648.2:p.Pro368Leu | |
| ENST00000598834.2:c.1127C>T | ||
| ENST00000324071.8:c.1103C>T | ENSP00000324648.2:p.Pro368Leu | |
| ENST00000593831.1:c.395C>T | ENSP00000470582.1:p.Pro132Leu | |
| ENST00000597612.1:n.598C>T | ||
| NM_000767.4:c.1103C>T | NP_000758.1:p.Pro368Leu | |
| XM_005258569.3:c.1103C>T | XP_005258626.1:p.Pro368Leu | |
| XM_006723050.2:c.1103C>T | XP_006723113.1:p.Pro368Leu | |
| XM_011526546.1:c.1103C>T | XP_011524848.1:p.Pro368Leu | |
| XM_011526547.1:c.1103C>T | XP_011524849.1:p.Pro368Leu | |
| XM_011526548.1:c.623C>T | XP_011524850.1:p.Pro208Leu | |
| XM_011526549.1:c.512C>T | XP_011524851.1:p.Pro171Leu | |
| XM_011526550.1:c.503C>T | XP_011524852.1:p.Pro168Leu | |
| NM_000767.5:c.1103C>T MANE Select | NP_000758.1:p.Pro368Leu |