Linked Data
dbSNP Id:
rs6495446
gnomAD v2:
15-80154982-C-T
gnomAD v3:
15-79862640-C-T
gnomAD v4:
15-79862640-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.79862640C>T , CM000677.2:g.79862640C>T | GRCh38 |
| NC_000015.9:g.80154982C>T , CM000677.1:g.80154982C>T | GRCh37 |
| NC_000015.8:g.77942037C>T | NCBI36 |
| NG_029243.1:g.39646G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258874.4:c.380-17198G>A (MTHFS) MANE Select | ENSP00000258874.4:n.380-17198G>A | |
| ENST00000258874.3:c.380-17198G>A (MTHFS) | ENSP00000258874.3:n.380-17198G>A | |
| ENST00000479961.1:c.308-17198G>A (ST20-MTHFS) | ENSP00000455643.1:n.308-17198G>A | |
| ENST00000494999.1:c.302-17198G>A (ST20-MTHFS) | ENSP00000489298.1:n.302-17198G>A | |
| ENST00000559722.2:c.467-17198G>A (MTHFS) | ENSP00000489076.1:n.467-17198G>A | |
| ENST00000615374.5:c.308-17198G>A (ST20-MTHFS) | ENSP00000489525.1:n.308-17198G>A | |
| NM_001199758.1:c.209-17198G>A (MTHFS) | NP_001186687.1:n.209-17198G>A | |
| NM_001199760.1:c.308-17198G>A (ST20-MTHFS) | NP_001186689.1:n.308-17198G>A | |
| NM_006441.3:c.380-17198G>A (MTHFS) | NP_006432.1:n.380-17198G>A | |
| NR_037654.1:n.470-17198G>A (MTHFS) | ||
| NM_006441.4:c.380-17198G>A (MTHFS) MANE Select | NP_006432.1:n.380-17198G>A | |
| NM_001199760.2:c.308-17198G>A (ST20-MTHFS) | NP_001186689.1:n.308-17198G>A | |
| NR_037654.2:n.487-17198G>A (MTHFS) |