Linked Data
gnomAD v4:
X-8731844-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731844A>G , CM000685.2:g.8731844A>G | GRCh38 |
| NC_000023.10:g.8699885A>G , CM000685.1:g.8699885A>G | GRCh37 |
| NC_000023.9:g.8659885A>G | NCBI36 |
| NG_007088.1:g.5343T>C | |
| NG_007088.2:g.5343T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.193T>C MANE Select | ENSP00000262648.3:p.Phe65Leu | |
| ENST00000262648.7:c.193T>C | ENSP00000262648.3:p.Phe65Leu | |
| ENST00000619786.1:c.190T>C | ENSP00000478734.1:p.Phe64Leu | |
| NM_000216.2:c.193T>C | NP_000207.2:p.Phe65Leu | |
| XM_005274501.3:c.193T>C | XP_005274558.1:p.Phe65Leu | |
| NM_000216.3:c.193T>C | NP_000207.2:p.Phe65Leu | |
| XM_005274501.4:c.193T>C | XP_005274558.1:p.Phe65Leu | |
| NM_000216.4:c.193T>C MANE Select | NP_000207.2:p.Phe65Leu |