Linked Data
dbSNP Id:
rs2736122
gnomAD v2:
5-1257621-G-A
gnomAD v3:
5-1257506-G-A
gnomAD v4:
5-1257506-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1257506G>A , CM000667.2:g.1257506G>A | GRCh38 |
| NC_000005.9:g.1257621G>A , CM000667.1:g.1257621G>A | GRCh37 |
| NC_000005.8:g.1310621G>A | NCBI36 |
| NG_009265.1:g.42542C>T , LRG_343:g.42542C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310581.10:c.3032+1092C>T MANE Select | ENSP00000309572.5:n.3032+1092C>T | |
| ENST00000656021.1:c.*2578+1092C>T | ENSP00000499759.1:n.*2578+1092C>T | |
| ENST00000667927.1:n.320+1092C>T | ||
| ENST00000310581.9:c.3032+1092C>T | ENSP00000309572.5:n.3032+1092C>T | |
| ENST00000334602.10:c.2843+1092C>T | ENSP00000334346.6:n.2843+1092C>T | |
| ENST00000460137.6:c.2625+1092C>T | ENSP00000425003.1:n.2625+1092C>T | |
| ENST00000484238.6:n.1474+1092C>T | ||
| NM_001193376.1:c.2843+1092C>T | NP_001180305.1:n.2843+1092C>T | |
| NM_198253.2:c.3032+1092C>T , LRG_343t1:c.3032+1092C>T | NP_937983.2:n.3032+1092C>T | |
| XM_011514104.1:c.1502+1092C>T | XP_011512406.1:n.1502+1092C>T | |
| XM_011514105.1:c.1388+1092C>T | XP_011512407.1:n.1388+1092C>T | |
| XM_011514106.1:c.1388+1092C>T | XP_011512408.1:n.1388+1092C>T | |
| NR_149162.1:n.2719+1092C>T | ||
| NR_149163.1:n.2683+1092C>T | ||
| NM_001193376.2:c.2843+1092C>T | NP_001180305.1:n.2843+1092C>T | |
| NM_198253.3:c.3032+1092C>T MANE Select | NP_937983.2:n.3032+1092C>T | |
| NR_149162.2:n.2740+1092C>T | ||
| NR_149163.2:n.2704+1092C>T | ||
| NM_001193376.3:c.2843+1092C>T | NP_001180305.1:n.2843+1092C>T | |
| NR_149162.3:n.2740+1092C>T | ||
| NR_149163.3:n.2704+1092C>T |