Linked Data
dbSNP Id:
rs780296540
ExAC:
19:36317543 G / T
gnomAD v2:
19-36317543-G-T
gnomAD v3:
19-35826641-G-T
gnomAD v4:
19-35826641-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35826641G>T , CM000681.2:g.35826641G>T | GRCh38 |
| NC_000019.9:g.36317543G>T , CM000681.1:g.36317543G>T | GRCh37 |
| NC_000019.8:g.41009383G>T | NCBI36 |
| NG_013356.2:g.47647C>A , LRG_693:g.47647C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.3599C>A MANE Select | ENSP00000368190.4:p.Pro1200His | |
| ENST00000353632.6:c.3479C>A | ENSP00000343634.5:p.Pro1160His | |
| ENST00000378910.9:c.3599C>A | ENSP00000368190.4:p.Pro1200His | |
| NM_004646.3:c.3599C>A , LRG_693t1:c.3599C>A | NP_004637.1:p.Pro1200His | |
| NM_004646.4:c.3599C>A MANE Select | NP_004637.1:p.Pro1200His |