HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107661617C>A , CM000669.2:g.107661617C>A | GRCh38 |
NC_000007.13:g.107302062C>A , CM000669.1:g.107302062C>A | GRCh37 |
NC_000007.12:g.107089298C>A | NCBI36 |
NG_008489.1:g.5983C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.-3-22C>A (SLC26A4) MANE Select | ENSP00000494017.1:n.-3-22C>A | |
ENST00000265715.7:c.-3-22C>A (SLC26A4) | ENSP00000265715.3:n.-3-22C>A | |
ENST00000440056.1:c.-3-22C>A (SLC26A4) | ENSP00000394760.1:n.-3-22C>A | |
NM_000441.1:c.-3-22C>A (SLC26A4) | NP_000432.1:n.-3-22C>A | |
NR_028137.1:n.182G>T (SLC26A4-AS1) | ||
XM_005250425.1:c.-3-22C>A (SLC26A4) | XP_005250482.1:n.-3-22C>A | |
XM_005250425.2:c.-3-22C>A (SLC26A4) | XP_005250482.1:n.-3-22C>A | |
NM_000441.2:c.-3-22C>A (SLC26A4) MANE Select | NP_000432.1:n.-3-22C>A |