Linked Data
dbSNP Id:
rs939127972
gnomAD v2:
5-153607162-G-T
gnomAD v3:
5-154227602-G-T
gnomAD v4:
5-154227602-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154227602G>T , CM000667.2:g.154227602G>T | GRCh38 |
| NC_000005.9:g.153607162G>T , CM000667.1:g.153607162G>T | GRCh37 |
| NC_000005.8:g.153587355G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297107.11:c.159+36577G>T MANE Select | ENSP00000297107.6:n.159+36577G>T | |
| ENST00000297107.10:c.159+36577G>T | ENSP00000297107.6:n.159+36577G>T | |
| ENST00000377661.2:c.159+36577G>T | ENSP00000366889.2:n.159+36577G>T | |
| ENST00000425427.6:c.159+36577G>T | ENSP00000415210.2:n.159+36577G>T | |
| ENST00000520647.5:c.159+36577G>T | ENSP00000428573.1:n.159+36577G>T | |
| ENST00000521781.5:n.150+9453G>T | ||
| NM_198321.3:c.159+36577G>T | NP_938080.1:n.159+36577G>T | |
| NM_198321.4:c.159+36577G>T MANE Select | NP_938080.1:n.159+36577G>T |