Linked Data
dbSNP Id:
rs1575712205
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877477G>T , CM000664.2:g.240877477G>T | GRCh38 |
| NC_000002.11:g.241816894G>T , CM000664.1:g.241816894G>T | GRCh37 |
| NC_000002.10:g.241465567G>T | NCBI36 |
| NG_008005.1:g.13733G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.847-60G>T MANE Select | ENSP00000302620.3:n.847-60G>T | |
| ENST00000307503.3:c.847-60G>T | ENSP00000302620.3:n.847-60G>T | |
| ENST00000470255.1:n.565G>T | ||
| NM_000030.2:c.847-60G>T | NP_000021.1:n.847-60G>T | |
| NM_000030.3:c.847-60G>T MANE Select | NP_000021.1:n.847-60G>T |