MyVariant.info:
GRCh38
chr2:g.74142024A>G
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74142024A>G , CM000664.2:g.74142024A>G | GRCh38 |
| NC_000002.11:g.74369151A>G , CM000664.1:g.74369151A>G | GRCh37 |
| NC_000002.10:g.74222659A>G | NCBI36 |
| NG_031910.1:g.10889T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327428.10:c.258+248T>C MANE Select | ENSP00000331369.5:n.258+248T>C | |
| ENST00000295326.4:c.169+3165T>C | ENSP00000295326.4:n.169+3165T>C | |
| ENST00000327428.9:c.258+248T>C | ENSP00000331369.5:n.258+248T>C | |
| ENST00000469676.1:n.1192+3165T>C | ||
| ENST00000477685.5:n.409+248T>C | ||
| ENST00000484655.1:n.2724+3165T>C | ||
| NM_001035505.1:c.169+3165T>C | NP_001030582.1:n.169+3165T>C | |
| NM_212552.2:c.258+248T>C | NP_997717.2:n.258+248T>C | |
| NM_212552.3:c.258+248T>C MANE Select | NP_997717.2:n.258+248T>C | |
| NM_001035505.2:c.169+3165T>C | NP_001030582.1:n.169+3165T>C |