Linked Data
dbSNP Id:
rs1428030
gnomAD v2:
5-80008704-T-C
gnomAD v3:
5-80712885-T-C
gnomAD v4:
5-80712885-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80712885T>C , CM000667.2:g.80712885T>C | GRCh38 |
| NC_000005.9:g.80008704T>C , CM000667.1:g.80008704T>C | GRCh37 |
| NC_000005.8:g.80044460T>C | NCBI36 |
| NG_016607.1:g.63411T>C | |
| NG_016607.2:g.63411T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265081.7:c.1341-12568T>C MANE Select | ENSP00000265081.6:n.1341-12568T>C | |
| ENST00000658259.1:c.1173-12568T>C | ENSP00000499617.1:n.1173-12568T>C | |
| ENST00000667069.1:c.1341-12568T>C | ENSP00000499502.1:n.1341-12568T>C | |
| ENST00000670357.1:c.1341-12568T>C | ENSP00000499791.1:n.1341-12568T>C | |
| ENST00000265081.6:c.1341-12568T>C | ENSP00000265081.6:n.1341-12568T>C | |
| NM_002439.4:c.1341-12568T>C | NP_002430.3:n.1341-12568T>C | |
| NM_002439.5:c.1341-12568T>C MANE Select | NP_002430.3:n.1341-12568T>C |