Linked Data
ClinVar Variation Id:
1231050
ClinVar RCV Id:
RCV001617097
dbSNP Id:
rs17137124
ExAC:
7:114210814 T / C
gnomAD v2:
7-114210814-T-C
gnomAD v3:
7-114570759-T-C
gnomAD v4:
7-114570759-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114570759T>C , CM000669.2:g.114570759T>C | GRCh38 |
| NC_000007.13:g.114210814T>C , CM000669.1:g.114210814T>C | GRCh37 |
| NC_000007.12:g.113998050T>C | NCBI36 |
| NG_007491.2:g.489450T>C | |
| NG_007491.3:g.489450T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403559.9:c.258+36053T>C | ENSP00000385069.4:n.258+36053T>C | |
| ENST00000703612.1:c.258+36053T>C | ENSP00000515396.1:n.258+36053T>C | |
| ENST00000703613.1:c.258+36053T>C | ENSP00000515397.1:n.258+36053T>C | |
| ENST00000703614.1:c.258+36053T>C | ENSP00000515398.1:n.258+36053T>C | |
| ENST00000703615.1:c.258+36053T>C | ENSP00000515399.1:n.258+36053T>C | |
| ENST00000703616.1:c.259-48T>C | ENSP00000515400.1:n.259-48T>C | |
| ENST00000350908.9:c.258+36053T>C MANE Select | ENSP00000265436.7:n.258+36053T>C | |
| ENST00000393489.8:c.*52+32376T>C | ENSP00000377129.4:n.*52+32376T>C | |
| ENST00000350908.8:c.258+36053T>C | ENSP00000265436.7:n.258+36053T>C | |
| ENST00000360232.8:c.258+36053T>C | ENSP00000353367.4:n.258+36053T>C | |
| ENST00000378237.7:c.258+36053T>C | ENSP00000367482.3:n.258+36053T>C | |
| ENST00000390668.3:c.256-48T>C | ENSP00000375084.3:n.256-48T>C | |
| ENST00000393489.7:c.-19+32376T>C | ENSP00000377129.3:n.-19+32376T>C | |
| ENST00000393491.7:c.-19+36053T>C | ENSP00000377130.3:n.-19+36053T>C | |
| ENST00000393494.6:c.258+36053T>C | ENSP00000377132.2:n.258+36053T>C | |
| ENST00000393495.7:c.169-60778T>C | ENSP00000377133.3:n.169-60778T>C | |
| ENST00000393498.6:c.258+36053T>C | ENSP00000377135.2:n.258+36053T>C | |
| ENST00000403559.8:c.258+36053T>C | ENSP00000385069.4:n.258+36053T>C | |
| ENST00000408937.7:c.259-48T>C | ENSP00000386200.3:n.259-48T>C | |
| ENST00000412402.5:c.*53-48T>C | ENSP00000405470.1:n.*53-48T>C | |
| ENST00000440349.5:c.*376+32376T>C | ENSP00000395552.1:n.*376+32376T>C | |
| ENST00000441290.6:c.*52+32376T>C | ENSP00000416825.1:n.*52+32376T>C | |
| ENST00000452963.6:c.258+36053T>C | ENSP00000409826.2:n.258+36053T>C | |
| ENST00000459666.5:n.410-48T>C | ||
| ENST00000634411.1:c.258+36053T>C | ENSP00000489135.1:n.258+36053T>C | |
| ENST00000634623.1:c.258+36053T>C | ENSP00000488944.1:n.258+36053T>C | |
| ENST00000635109.1:c.*52+32376T>C | ENSP00000489457.1:n.*52+32376T>C | |
| ENST00000635534.1:c.258+36053T>C | ENSP00000489229.1:n.258+36053T>C | |
| ENST00000635638.1:c.258+36053T>C | ENSP00000489073.1:n.258+36053T>C | |
| NM_001172766.2:c.258+36053T>C | NP_001166237.1:n.258+36053T>C | |
| NM_001172767.2:c.259-48T>C | NP_001166238.1:n.259-48T>C | |
| NM_014491.3:c.258+36053T>C | NP_055306.1:n.258+36053T>C | |
| NM_148898.3:c.259-48T>C | NP_683696.2:n.259-48T>C | |
| NM_148899.3:c.258+36053T>C | NP_683697.2:n.258+36053T>C | |
| NM_148900.3:c.258+36053T>C | NP_683698.2:n.258+36053T>C | |
| NR_033766.1:n.720-48T>C | ||
| NR_033767.1:n.690+32376T>C | ||
| XM_011516706.1:c.259-48T>C | XP_011515008.1:n.259-48T>C | |
| XM_017012801.2:c.259-48T>C | XP_016868290.1:n.259-48T>C | |
| NM_014491.4:c.258+36053T>C MANE Select | NP_055306.1:n.258+36053T>C | |
| NM_001172766.3:c.258+36053T>C | NP_001166237.1:n.258+36053T>C | |
| NM_148898.4:c.259-48T>C | NP_683696.2:n.259-48T>C | |
| NR_033766.2:n.703-48T>C | ||
| NR_033767.2:n.872+32376T>C | ||
| NM_148900.4:c.258+36053T>C | NP_683698.2:n.258+36053T>C |