Linked Data
dbSNP Id:
rs752251108
ExAC:
6:24302071 C / T
gnomAD v2:
6-24302071-C-T
gnomAD v4:
6-24301843-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24301843C>T , CM000668.2:g.24301843C>T | GRCh38 |
| NC_000006.11:g.24302071C>T , CM000668.1:g.24302071C>T | GRCh37 |
| NC_000006.10:g.24410050C>T | NCBI36 |
| NG_012829.1:g.61210G>A | |
| NG_012829.2:g.86450G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.429G>A MANE Select | ENSP00000367715.3:p.Leu143= | |
| ENST00000378454.7:c.429G>A | ENSP00000367715.3:p.Leu143= | |
| NM_001195610.1:c.429G>A | NP_001182539.1:p.Leu143= | |
| NM_016356.4:c.429G>A | NP_057440.2:p.Leu143= | |
| NM_016356.5:c.429G>A MANE Select | NP_057440.2:p.Leu143= | |
| NM_001195610.2:c.429G>A | NP_001182539.1:p.Leu143= |