Linked Data
dbSNP Id:
rs1406618020
gnomAD v2:
7-66103952-C-T
gnomAD v3:
7-66638965-C-T
gnomAD v4:
7-66638965-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66638965C>T , CM000669.2:g.66638965C>T | GRCh38 |
| NC_000007.13:g.66103952C>T , CM000669.1:g.66103952C>T | GRCh37 |
| NC_000007.12:g.65741387C>T | NCBI36 |
| NG_028110.1:g.15085C>T | |
| NG_028110.2:g.15085C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.563C>T | ENSP00000275532.4:p.Pro188Leu | |
| ENST00000449064.6:c.505+36C>T | ||
| ENST00000503687.2:c.397+36C>T | ENSP00000421074.1:n.397+36C>T | |
| ENST00000638524.1:c.428C>T | ||
| ENST00000638540.1:c.407C>T | ||
| ENST00000639828.2:c.603C>T MANE Select | ENSP00000492240.1:p.Pro201= | |
| ENST00000639879.1:c.*466C>T | ENSP00000492161.1:n.*466C>T | |
| ENST00000640234.1:c.437+36C>T | ||
| ENST00000640385.1:c.603C>T | ENSP00000491193.1:p.Pro201= | |
| ENST00000640601.1:c.110C>T | ||
| ENST00000640851.1:c.567+36C>T | ENSP00000492577.1:n.567+36C>T | |
| ENST00000275532.7:c.603C>T | ENSP00000275532.3:p.Pro201= | |
| ENST00000443322.1:c.603C>T | ENSP00000411624.1:p.Pro201= | |
| ENST00000503687.1:c.397+36C>T | ENSP00000421074.1:n.397+36C>T | |
| NM_001167961.2:c.603C>T | NP_001161433.1:p.Pro201= | |
| NM_153033.4:c.603C>T | NP_694578.1:p.Pro201= | |
| NM_153033.5:c.603C>T MANE Select | NP_694578.1:p.Pro201= |