Linked Data
dbSNP Id:
rs1351921706
gnomAD v2:
2-182423404-T-C
gnomAD v3:
2-181558677-T-C
gnomAD v4:
2-181558677-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181558677T>C , CM000664.2:g.181558677T>C | GRCh38 |
| NC_000002.11:g.182423404T>C , CM000664.1:g.182423404T>C | GRCh37 |
| NC_000002.10:g.182131649T>C | NCBI36 |
| NG_021178.1:g.103431A>G | |
| NG_021178.2:g.103431A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.-48A>G | ENSP00000508396.1:n.-48A>G | |
| ENST00000410087.8:c.709A>G MANE Select | ENSP00000386725.3:p.Ser237Gly | |
| ENST00000339098.9:c.787A>G | ENSP00000341159.5:p.Ser263Gly | |
| ENST00000374967.6:c.645A>G | ENSP00000364106.2:p.Leu215= | |
| ENST00000374969.6:c.482-8969A>G | ENSP00000364108.2:n.482-8969A>G | |
| ENST00000374970.6:c.614-8969A>G | ENSP00000364109.2:n.614-8969A>G | |
| ENST00000409440.7:c.655A>G | ENSP00000387080.3:p.Ser219Gly | |
| ENST00000410087.7:c.709A>G | ENSP00000386725.3:p.Ser237Gly | |
| ENST00000421817.5:c.513A>G | ENSP00000411466.1:p.Leu171= | |
| ENST00000452174.5:c.513A>G | ENSP00000409198.1:p.Leu171= | |
| ENST00000466715.5:n.525A>G | ||
| ENST00000479558.5:n.707A>G | ||
| ENST00000494398.5:n.709A>G | ||
| NM_001030311.2:c.787A>G | NP_001025482.1:p.Ser263Gly | |
| NM_001030312.2:c.482-8969A>G | NP_001025483.1:n.482-8969A>G | |
| NM_001030313.2:c.614-8969A>G | NP_001025484.1:n.614-8969A>G | |
| NM_001160277.1:c.655A>G | NP_001153749.1:p.Ser219Gly | |
| NM_201548.4:c.709A>G | NP_963842.1:p.Ser237Gly | |
| NR_027689.1:n.614A>G | ||
| NR_027690.1:n.746A>G | ||
| NM_201548.5:c.709A>G MANE Select | NP_963842.1:p.Ser237Gly | |
| NM_001030311.3:c.787A>G | NP_001025482.1:p.Ser263Gly | |
| NM_001030312.3:c.482-8969A>G | NP_001025483.1:n.482-8969A>G | |
| NM_001030313.3:c.614-8969A>G | NP_001025484.1:n.614-8969A>G | |
| NM_001160277.2:c.655A>G | NP_001153749.1:p.Ser219Gly | |
| NR_027689.2:n.612A>G | ||
| NR_027690.2:n.744A>G |