Linked Data
dbSNP Id:
rs751200677
ExAC:
19:45412091 T / C
gnomAD v2:
19-45412091-T-C
gnomAD v4:
19-44908834-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44908834T>C , CM000681.2:g.44908834T>C | GRCh38 |
| NC_000019.9:g.45412091T>C , CM000681.1:g.45412091T>C | GRCh37 |
| NC_000019.8:g.50103931T>C | NCBI36 |
| NG_007084.2:g.8053T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.538T>C MANE Select | ENSP00000252486.3:p.Tyr180His | |
| ENST00000252486.8:c.538T>C | ENSP00000252486.3:p.Tyr180His | |
| ENST00000425718.1:c.538T>C | ENSP00000410423.1:p.Tyr180His | |
| ENST00000434152.5:c.616T>C | ENSP00000413653.2:p.Tyr206His | |
| ENST00000446996.5:c.538T>C | ENSP00000413135.1:p.Tyr180His | |
| NM_000041.3:c.538T>C | NP_000032.1:p.Tyr180His | |
| NM_001302688.1:c.616T>C | NP_001289617.1:p.Tyr206His | |
| NM_001302689.1:c.538T>C | NP_001289618.1:p.Tyr180His | |
| NM_001302690.1:c.538T>C | NP_001289619.1:p.Tyr180His | |
| NM_001302691.1:c.538T>C | NP_001289620.1:p.Tyr180His | |
| NM_000041.4:c.538T>C MANE Select | NP_000032.1:p.Tyr180His | |
| NM_001302688.2:c.616T>C | NP_001289617.1:p.Tyr206His | |
| NM_001302689.2:c.538T>C | NP_001289618.1:p.Tyr180His | |
| NM_001302691.2:c.538T>C | NP_001289620.1:p.Tyr180His | |
| NM_001302690.2:c.538T>C | NP_001289619.1:p.Tyr180His |