Linked Data
dbSNP Id:
rs1399113238
gnomAD v2:
X-54069049-G-C
gnomAD v3:
X-54042616-G-C
gnomAD v4:
X-54042616-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54042616G>C , CM000685.2:g.54042616G>C | GRCh38 |
| NC_000023.10:g.54069049G>C , CM000685.1:g.54069049G>C | GRCh37 |
| NC_000023.9:g.54085774G>C | NCBI36 |
| NG_021309.1:g.7521C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338946.11:c.98+15C>G | ENSP00000340051.7:n.98+15C>G | |
| ENST00000396282.7:c.98+15C>G | ENSP00000379578.3:n.98+15C>G | |
| ENST00000686349.1:c.98+15C>G | ENSP00000510424.1:n.98+15C>G | |
| ENST00000687764.1:c.98+15C>G | ENSP00000509967.1:n.98+15C>G | |
| ENST00000338154.11:c.98+15C>G MANE Select | ENSP00000338868.6:n.98+15C>G | |
| ENST00000322659.12:c.98+15C>G | ENSP00000319473.8:n.98+15C>G | |
| ENST00000338154.10:c.98+15C>G | ENSP00000338868.6:n.98+15C>G | |
| ENST00000338946.10:c.98+15C>G | ENSP00000340051.6:n.98+15C>G | |
| ENST00000357988.9:c.206+15C>G | ENSP00000350676.5:n.206+15C>G | |
| ENST00000415025.5:c.98+15C>G | ENSP00000404117.1:n.98+15C>G | |
| ENST00000425862.5:c.98+15C>G | ENSP00000408113.1:n.98+15C>G | |
| ENST00000433120.5:c.98+15C>G | ENSP00000410100.1:n.98+15C>G | |
| ENST00000437224.5:c.98+15C>G | ENSP00000398995.1:n.98+15C>G | |
| ENST00000445025.1:c.98+15C>G | ENSP00000416546.1:n.98+15C>G | |
| ENST00000453905.5:c.206+15C>G | ENSP00000405897.1:n.206+15C>G | |
| ENST00000462182.1:n.86+15C>G | ||
| NM_001184896.1:c.206+15C>G | NP_001171825.1:n.206+15C>G | |
| NM_001184897.1:c.98+15C>G | NP_001171826.1:n.98+15C>G | |
| NM_001184898.1:c.98+15C>G | NP_001171827.1:n.98+15C>G | |
| NM_015107.2:c.98+15C>G | NP_055922.1:n.98+15C>G | |
| XM_005261996.1:c.206+15C>G | XP_005262053.1:n.206+15C>G | |
| XM_005261997.2:c.98+15C>G | XP_005262054.1:n.98+15C>G | |
| XM_005261999.1:c.98+15C>G | XP_005262056.1:n.98+15C>G | |
| XM_005262000.1:c.206+15C>G | XP_005262057.1:n.206+15C>G | |
| XM_006724585.1:c.206+15C>G | XP_006724648.1:n.206+15C>G | |
| XM_011530778.1:c.206+15C>G | XP_011529080.1:n.206+15C>G | |
| XM_005261997.4:c.98+15C>G | XP_005262054.1:n.98+15C>G | |
| XM_017029361.2:c.98+15C>G | XP_016884850.1:n.98+15C>G | |
| XM_017029362.2:c.98+15C>G | XP_016884851.1:n.98+15C>G | |
| NM_001184898.2:c.98+15C>G | NP_001171827.1:n.98+15C>G | |
| NM_015107.3:c.98+15C>G MANE Select | NP_055922.1:n.98+15C>G | |
| NM_001184897.2:c.98+15C>G | NP_001171826.1:n.98+15C>G |