MyVariant.info:
GRCh37
chr8:g.39872935T>C
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.40015416T>C , CM000670.2:g.40015416T>C | GRCh38 |
| NC_000008.10:g.39872935T>C , CM000670.1:g.39872935T>C | GRCh37 |
| NC_000008.9:g.39992092T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502986.4:c.1038T>C MANE Select | ENSP00000443432.2:p.Tyr346= | |
| ENST00000502986.3:c.1038T>C | ENSP00000443432.2:p.Tyr346= | |
| ENST00000343295.8:n.3289T>C | ||
| ENST00000389060.8:c.1038T>C | ENSP00000426447.1:p.Tyr346= | |
| ENST00000418094.1:n.665T>C | ||
| ENST00000502986.2:c.1077T>C | ENSP00000443432.1:p.Tyr359= | |
| NM_194294.2:c.1077T>C | NP_919270.2:p.Tyr359= | |
| NM_194294.3:c.1077T>C | NP_919270.2:p.Tyr359= | |
| NM_001395206.1:c.1038T>C | NP_001382135.1:p.Tyr346= | |
| NM_194294.5:c.1038T>C MANE Select | NP_919270.3:p.Tyr346= |