MyVariant.info:
GRCh37
chr1:g.24137274A>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23810784A>G , CM000663.2:g.23810784A>G | GRCh38 |
| NC_000001.10:g.24137274A>G , CM000663.1:g.24137274A>G | GRCh37 |
| NC_000001.9:g.24009861A>G | NCBI36 |
| NG_013061.1:g.19676T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.513T>C MANE Select | ENSP00000363614.3:p.Ala171= | |
| ENST00000235958.4:c.132-2461T>C | ||
| ENST00000374487.6:c.*554T>C | ENSP00000363611.2:n.*554T>C | |
| ENST00000374490.7:c.513T>C | ENSP00000363614.3:p.Ala171= | |
| ENST00000436439.6:c.349-2461T>C | ENSP00000389281.2:n.349-2461T>C | |
| ENST00000496907.1:n.148T>C | ||
| ENST00000509389.5:n.361-2569T>C | ||
| ENST00000513148.1:n.514T>C | ||
| NM_000191.2:c.513T>C | NP_000182.2:p.Ala171= | |
| NM_001166059.1:c.349-2461T>C | NP_001159531.1:n.349-2461T>C | |
| NM_000191.3:c.513T>C MANE Select | NP_000182.2:p.Ala171= | |
| NM_001166059.2:c.349-2461T>C | NP_001159531.1:n.349-2461T>C |